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Objective: Comparison of the efficacy of S8 navigation system-assisted correction versus manual correction in the treatment of adolescent congenital scoliosis (ACS). Methods: A cohort study. A retrospective analysis was conducted on the clinical and imaging data of 48 patients with congenital scoliosis who were treated at the Honghui Hospital Affiliated with Xi'an Jiaotong University between May 2021 and January 2023. Based on the auxiliary systems, the patients were divided into two groups: the S8 navigation system-assisted correction group (navigation group, n =20) and the C-arm-assisted manual correction group (manual group, n =28). The primary outcome measures were coronal balance (CB), sagittal vertical axis (SVA), lumbar lordosis (LL), pelvic incidence (PI), pelvic tilt (PT), pelvic incidence-lumbar lordosis mismatch (PI-LL), and the Scoliosis Research Society-22 (SRS-22) questionnaire. The secondary outcome measures included surgery-related conditions and postoperative complications. Results: Of the 48 patients, there were 21 males and 27 females, with a mean age of (13.3±3.0) years. There was no statistically significant differences in preoperative distance of C 7 plumb line to center sacral vertical line (C 7 PL-CSVL), SVA, LL, PI, PT, PI-LL mismatch, or SRS-22 scores between the two groups (all P >0.05). Postoperatively, the C 7 PL-CSVL and SVA in the navigation group were both better than in the manual group [(12.51±11.86) mm vs (19.64±1.33) mm, (15.72±3.64) mm vs (25.42±2.53) mm, both P <0.05]. There was no statistically significant differences in postoperative LL, PI, PT, PI-LL mismatch, or SRS-22 scores between the two groups (all P >0.05). The accuracy rates for Grade 0 and Grade 0+1 screw placements were 91.17% (93/102) and 95.09% (97/102) in the navigation group, respectively, which were higher than those in the manual group [84.45% (125/148) and 91.89% (136/148), respectively] (both P <0.05). The rates of adjacent facet joint violation in Grades A, B, and C were 88.23% (90/102), 11.76% (12/102), and 0 (0/102) in the navigation group, respectively, which were all better than those in the manual group [83.44% (121/145), 8.96% (13/145), and 7.58% (11/145)] ( P =0.015). The navigation group had shorter operative time, single screw placement time, and total screw placement time, and the distance between the screws and the cortex was closer compared to the manual group (all P <0.05). Intraoperative blood loss in the manual group was higher than that in the navigation group ( P <0.05). The average curve correction rate in the navigation group (74.68%±10.70%) was better than that in the manual group (59.60%±6.90%) ( P <0.001). The intraoperative fluoroscopy dose in the navigation group was higher than that in the manual group [(416±70) mGy vs (360±81) mGy, P =0.015]. The incision length in the navigation group was longer than that in the manual group ( P <0.05). There was no statistically significant difference in preoperative VAS pain score between the two groups ( P >0.05). The postoperative visual analogue scale scores of pain on day 3 was better in the navigation group [(2.60±0.22) vs (3.10±0.32), P <0.001], while there was no statistically significant differences at other time points between the two groups (all P >0.05). No complications occurred in either group. Conclusion: The S8 navigation system demonstrates good corrective outcomes, high screw placement accuracy, low facet joint violation, and favorable clinical results in the treatment of adolescent congenital scoliosis, making it an ideal auxiliary tool.

Objective: To investigate the clinical characteristics and management status of children with Turner syndrome (TS) in China. Methods: As a cross-sectional study, 1 089 TS patients were included in the database of the National Collaborative Alliance for the Diagnosis and Treatment of Turner Syndrome from August 2019 to November 2023. Clinical characteristics (growth development, sexual development, organ anomalies, etc.), karyotypes, auxiliary examinations, and treatments were collected and analyzed. Results: Among the 1 089 TS cases, 809 were recorded karyotypes. The karyotype distribution was as follows: 45, X in 317 cases (39.2%), X chromosome structural variants (including partial deletions of p or q arm, ring chromosome, and marker chromosome) in 89 cases (11.0%), 45, X/46, XX mosaicism in 158 cases (19.5%), mosaicism with X chromosome structural variants in 209 cases (25.8%), and presence of Y chromosome material in 36 cases (4.4%). Among the 824 TS cases, the age of diagnosis was 9.7(6.4, 12.2) years, with a height standard deviation score (HtSDS) of -3.1±1.2. Five hundred and fifty three cases underwent growth hormone (GH) stimulation test, and 352 cases (63.7%) had GH peak values <10 μg/L and 75.9% (577/760) had low IGF1 levels, with IGF1 SDS ≤-2 accounting for 38.2% (290 cases). Among 471 cases aged ≥8 years, 132 cases (28.0%) showed spontaneous sexual development (mean bone age (11.0±1.7) years), 10 cases had spontaneous menarche (mean bone age (12.0±2.2) years), and 2 cases had regular menstrual cycles. Common physical features included cubitus valgus (311 cases (28.5%)), neck webbing (188 cases (17.2%)), low posterior hairline (185 cases (17.0%)), shield chest (153 cases (14.0%)), high arched palate (127 cases (11.6%)), short fourth metacarpal (43 cases (3.9%)), and spinal abnormalities (38 cases (3.5%)). Congenital cardiovascular and urogenital anomalies occurred in 91 cases (19.4%) and 66 cases (12.0%)respectively. Abdominal ultrasound in 33 cases (7.2%) indicated fatty liver, hepatomegaly, intrahepatic bile duct stones, and splenomegaly. Among 23 cases undergoing oral glucose tolerance test (OGTT) test, 2 were diagnosed with diabetes mellitus and 4 with impaired glucose tolerance. Following diagnosis, 669 cases (80.7%) received rhGH treatment at a chronological age of (9±4) years and bone age of (8.3±3.2) years. Additionally, 112 cases (19.4%) received sex hormone replacement therapy starting at the age of (14±4) years and bone age of (12.6±1.2) years. Conclusions: The karyotypes of 45, X and mosaicism were most common in Chinese children with TS. The clinical manifestations were mainly short stature and gonadal dysplasia. However, a few TS children could be in the normal range of height, and some cases among those aged of ≥8 years old had spontaneous sexual development. Some exhibited physical features, congenital cardiovascular and urogenital anomalies, and dysfunction of the hypothalamic-pituitary-IGF1 axis. Moreover, a few of them developed impaired glucose tolerance and diabetes mellitus. Following diagnosis, most of the patients received rhGH treatment, and a few of them received sex hormone replacement therapy.

Objective: To analyze epidemiology of gastric cancer five-year survival distribution in Zhejiang population-based cancer registration. Methods: The follow-up data of registrated gastric cancer cases diagnosed from 2008 to 2019 in 22 national cancer registry areas of Zhejiang Province were collected and divided into three diagnostic periods: 2008-2011, 2012-2015 and 2016-2019 to calculate five-year observed survival rates (OSRs), five-year relative survival rates (RSRs) and five-year age-standardized relative survival rates (ARSRs). The distribution of population characteristics (including gender, urban/rural, age group and occupation) and clinical characteristics (including the highest diagnostic institution, sub-site, pathological type and degree of differentiation) of gastric cancer survival rates in each period were analysed. Results: 51 663 new cases of gastric cancer in 2008-2019 in the cancer registration area of Zhejiang Province were included in the analysis, and the ARSR of gastric cancer in 2008-2011, 2012-2015 and 2016-2019 showed an increasing trend (39.2%, 41.3% and 44.7%, respectively). In 2016-2019, the ARSR was similar across gender and urban and rural areas (44.4% for men and 45.7% for women; 44.9% in urban areas and 44.2% in rural areas); Among people with different occupations, the ARSR was highest among business and service workers (55.3%), the agriculture, forestry, animal husbandry and fisheries, water conservancy production workers and domestic workers were lower (41.5% and 43.2%, respectively). The highest diagnostic institution was the provincial hospital with a higher gastric cancer survival rate (47.0%) than the municipal (43.4%) and district (43.6%) levels. The ARSR for gastric cancer was relatively high in the lesser curvature (59.7%), pylorus (50.4%), antrum (49.3%), and greater curvature (48.7%), and lowest in cardia (38.9%). Among the major pathological types, adenocarcinoma (NOS) had an ARSR of 48.1%, mucinous adenocarcinoma 41.3%, imprinted cell carcinoma 39.4%, and squamous carcinoma 33.4%. The ARSR for highly differentiated, moderately differentiated, poorly differentiated and undifferentiated gastric cancers were 80.6%, 57.9%, 43.2% and 36.8%, respectively. Conclusion: The 5-year survival rate of gastric cancer in Zhejiang Province is high and on the rise, with similar survival rates in different genders, urban and rural areas, and significant differences in the survival rates of gastric cancer patients with different occupational groups, highest diagnostic institutions, tumour sub-sites, pathological types and differentiation degrees.

Objective: To observe the effects of targeting and blocking cannabinoid receptor 1 (CB1R) on mouse spleen immune function and inflammatory response under chronic intermittent hypoxia (CIH) conditions, and to explore its regulatory effort. Methods: Forty SPF male C57BL/6 mice aged 4 to 5 weeks,from May 2021 to August 2021 in Experimental Animal Center of the Second Hospital of Shanxi Medical University, were randomly divided into normal oxygen control group (NC), 6-week CIH group (6w CIH), 10-week CIH group (10w CIH), 6-week CIH+CB1R group (6w CIH+AM251) and 10-week CIH+CB1R group (10w CIH+AM251) according to the method of random number table. The advanced programmable intermittent low oxygen chamber was used to prepare the CIH mouse model. The morphological structure of spleen tissue of CIH mice was stained by hematoxylin-eosin (HE) staining. The expression levels of M1 and M2 macrophage surface markers CD86, CD206 were determined by immunofluorescence. The mRNA expression levels of CB1R, CD86, CD206 and the relative expression levels of RORγt and Foxp3,which are characteristic transcriptional regulators of T helper 17(Th17) and Treg cells were detected by quantitative reverse transcriptase PCR(qRT-PCR). The expression of inflammatory factors IL-6 and IL-10 was determined by ELISA. SPSS 26.0 and Graphpad prism 8.3 were used to analyze the data. Results: (1) Compared with NC group, spleen tissue structure was disordered, fibrous tissue hyperplasia, lymphocyte proliferation and disordered arrangement in periarteriole lymphatic sheath in CIH group. The expression of CB1R in CIH group was higher than that in NC group ( P <0.05), and with the prolongation of CIH time, the expression of 10w CIH group was higher than that in 6w CIH group( P <0.05). The expression of CB1R in CIH+AM251 group was lower than that in the corresponding CIH group(all P <0.05). (2) Compared with NC group, the expression level of CD86 in macrophages in CIH group was higher than that in NC group(all P <0.05). The relative expression of RORγt in 6w and 10w CIH groups was 0.76±0.03 and 0.91±0.04, respectively, which was higher than that in NC group (0.65±0.06)(all P <0.05). The relative expression levels of inflammatory factor IL-6 were 10.80±1.73 and 14.86±0.01, respectively, which were higher than 6.69±0.23 in the NC group (all P <0.05). The expression level of CD206 in macrophages in the CIH+AM251 group was higher than that in the CIH group(all P <0.05). The relative expression levels of Foxp3 in 6w and 10w CIH+AM251 groups were 0.62±0.05 and 0.32±0.21, respectively, which were higher than those in 6w CIH group (0.28±0.02) and 10w CIH group (0.02±0.01)( P <0.05). The relative expression levels of anti-inflammatory factor IL-10 were 668.45±15.71 and 379.15±56.84, respectively, which were higher than those in CIH group (all P <0.05). Conclusion: Targeted sealing of CB1R may alleviate inflammatory response of mouse spleen under CIH conditions by regulating macrophage polarization and the expression of inflammatory factors, and may have some protective effect.

Aging, a process of functional decline with the increase of chronological age, is a major risk factor for chronic diseases. Aging shows significant individual differences, which is influenced by both genetic and environmental factors. Accurate measurement of physiological age helps identify individuals with accelerated aging and those at high risk for chronic diseases and mortality, which would promote individual health management and precision medicine for healthy aging. In this paper, we summarize the omics-based aging clocks and discuss their current and future applications.

Objective: To explore the impact of CACNA1C rs58619945 genotype on the cortical thickness of attentional networks in patients with Bipolar 1 disorder type (BD-Ⅰ)., Methods: From August 2013 and August 2019, a total of 155 BD-Ⅰ patients were recruited from the outpatient and inpatient Departments of the Affiliated Brain Hospital of Guangzhou Medical University, along with 82 healthy controls (HC) from the community and university. Genotype for the CACNA1C rs58619945 locus was determined for all BD-I patients and HC subjects, followed by 3.0 T magnetic resonance imaging scans to measure the cortical thickness in the alert, orienting, and executive control subnetworks. General linear models (GLMs) were used to evaluate the impact of CACNA1C rs58619945 on the cortical thickness of attentional networks. Concurrently, attentional dimension functions were assessed using repeatable battery for the assessment of neuropsychological status (RBANS) and Cambridge neuropsychological test automated battery rapid visual information processing (CANTAB RVP) test., Results: Compared with the HC group, the BD-I patients had shown reduced thickness in bilateral prefrontal cortex, bilateral posterior cingulate cortex, and bilateral superior temporal cortex. A significant interaction between the CACNA1C genotype and the cortical thickness of right prefrontal cortex, right posterior parietal cortex and right superior temporal cortex was noted. Partial correlation analysis has demonstrated a significant correlation between CANTAB RVP and RBANS attention indices and cortical thickness in the right prefrontal cortex, right posterior cingulate cortex, and right superior temporal cortex predominantly among carriers of the BD-I G allele., Conclusion: The G allele of CACNA1C rs58619945 is associated with cortical thickness of the right prefrontal cortex, right posterior cingulate cortex, and right superior temporal cortex in BD-Ⅰ, which are part of the alerting and orienting network.

Objective: To evaluate preliminary application effects of a provincial-county-township-village four-level network framework which aims at promoting oral health of the elderly, and to conduct preliminary evaluations of the application of this model in the prevention and treatment of oral diseases among the elderly in economically accelerated areas. Methods: Based on the population survey in June 2022, the study focuses on the elderly (≥85 years old) veterans who fought in the Korean War and currently resided in Wuyi County, an old revolutionary base area in Zhejiang Province with accelerated economic development. A four-level network medical service model matrix was constructed, spanning from the provincial level to the county, township, and village. Digital oral health records were established, and in-home dental treatment was provided for elderly individuals who met the inclusion and exclusion criteria. Pre-treatment and 3-months follow-up visits were conducted, and the impact of oral health was recorded using a scale, along with a survey of denture satisfaction. Results: A total of 54 elderly individuals received the geriatric oral healthcare services. After a 3-months follow-up, the mean total score of the oral health impact profile-14 questionnaires was (3.27±3.00), which was significantly lower than the score (32.82±7.15) in pre-treatment ones ( Z =-2.94, P =0.003). Scores in dimensions such as physical pain, functional limitations, psychological discomfort, psychological disorders, and physical disorders were all significantly lower than the pre-treatment scores ( P <0.05). The visual analogue score for denture satisfaction was 48.64±1.21, indicating a satisfaction rate of 100% (11/11). Conclusions: These findings confirm the favorable preliminary application effects of the four-level network framework in improving the prevention and treatment of oral diseases among the elderly in economically accelerated areas.

Long non-coding RNAs (lncRNAs) play an indispensable role in the occurrence and development of ovarian cancer (OC). However, the potential involvement of lncRNAs in the progression of OC is largely unknown. To investigate the detailed roles and mechanisms ofRAD51 homolog B-antisense 1 ( RAD51B-AS1 ), a novel lncRNA in OC, reverse transcription-quantitative polymerase chain reaction (RT-qPCR) was performed to verify the expression of RAD51B-AS1 . Cellular proliferation, metastasis, and apoptosis were detected using the cell counting kit-8 (CCK-8), colony-formation, transwell, and flow cytometry assays. Mouse xenograft models were established for the detection of tumorigenesis. The results revealed that RAD51B-AS1 was significantly upregulated in a highly metastatic human OC cell line and OC tissues. RAD51B-AS1 significantly increased the proliferation and metastasis of OC cells and enhanced their resistance to anoikis. Biogenetics prediction analysis revealed that the only target gene of RAD51B-AS1 was RAD51B . Subsequent gene function experiments revealed that RAD51B exerts the same biological effects as RAD51B-AS1 . Rescue experiments demonstrated that the malignant biological behaviors promoted by RAD51B-AS1 overexpression were partially or completely reversed by RAD51B silencing in vitro and in vivo. Thus, RAD51B-AS1 promotes the malignant biological behaviors of OC and activates the protein kinase B (Akt)/B cell lymphoma protein-2 (Bcl-2) signaling pathway, and these effects may be associated with the positive regulation of RAD51B expression. RAD51B-AS1 is expected to serve as a novel molecular biomarker for the diagnosis and prediction of poor prognosis in OC, and as a potential therapeutic target for disease management.

Objective: To evaluate the diagnostic efficacy and practicality of the Jaundice color card (JCard) as a screening tool for neonatal jaundice. Methods: Following the standards for reporting of diagnostic accuracy studies (STARD) statement, a multicenter prospective study was conducted in 9 hospitals in China from October 2019 to September 2021. A total of 845 newborns who were admitted to the hospital or outpatient department for liver function testing due to their own diseases. The inclusion criteria were a gestational age of ≥35 weeks, a birth weight of ≥2 000 g, and an age of ≤28 days. The neonate's parents used the JCard to measure jaundice at the neonate's cheek. Within 2 hours of the JCard measurement, transcutaneous bilirubin (TcB) was measured with a JH20-1B device and total serum bilirubin (TSB) was detected. The Pearson's correlation analysis, Bland-Altman plots and the receiver operating characteristic (ROC) curve were used for statistic analysis. Results: Out of the 854 newborns, 445 were male and 409 were female; 46 were born at 35-36 weeks of gestational age and 808 were born at ≥37 weeks of gestational age. Additionally, 432 cases were aged 0-3 days, 236 cases were aged 4-7 days, and 186 cases were aged 8-28 days. The TSB level was (227.4±89.6) μmol/L, with a range of 23.7-717.0 μmol/L. The JCard level was (221.4±77.0) μmol/L and the TcB level was (252.5±76.0) μmol/L. Both the JCard and TcB values showed good correlation ( r =0.77 and 0.80, respectively) and agreements (96.0% (820/854) and 95.2% (813/854) of samples fell within the 95% limits of agreement, respectively) with TSB. The JCard value of 12 had a sensitivity of 0.93 and specificity of 0.75 for identifying a TSB ≥205.2 μmol/L, and a sensitivity of 1.00 and specificity of 0.35 for identifying a TSB ≥342.0 μmol/L. The TcB value of 205.2 μmol/L had a sensitivity of 0.97 and specificity of 0.60 for identifying TSB levels of 205.2 μmol/L, and a sensitivity of 1.00 and specificity of 0.26 for identifying TSB levels of 342.0 μmol/L. The areas under the ROC curve (AUC) of JCard for identifying TSB levels of 153.9, 205.2, 256.5, and 342.0 μmol/L were 0.96, 0.92, 0.83, and 0.83, respectively. The AUC of TcB were 0.94, 0.91, 0.86, and 0.87, respectively. There were both no significant differences between the AUC of JCard and TcB in identifying TSB levels of 153.9 and 205.2 μmol/L (both P> 0.05). However, the AUC of JCard were both lower than those of TcB in identifying TSB levels of 256.5 and 342.0 μmol/L (both P <0.05). Conclusions: JCard can be used to classify different levels of bilirubin, but its diagnostic efficacy decreases with increasing bilirubin levels. When TSB level are ≤205.2 μmol/L, its diagnostic efficacy is equivalent to that of the JH20-1B. To prevent the misdiagnosis of severe jaundice, it is recommended that parents use a low JCard score, such as 12, to identify severe hyperbilirubinemia (TSB ≥342.0 μmol/L).

Objective: To explore the efficacy of arthroscopic release in treating postoperative knee adhesion and investigate the influence of release timing on the treatment outcomes. Methods: A total of 50 patients who accepted arthroscopic release in Peking University Third Hospital from February 2017 to December 2021 were included in the retrospective cohort. The study cohort comprised 28 men and 22 women, with a mean age of (30.8±11.9) years. All the primary surgeries were manipulated under arthroscopes. A comparison was made between pre-and postoperative range of motion (ROM), visual analog scale (VAS), International Knee Documentation Committee (IKDC) scores, and Tegner activity scale scores for the patients. According to the interval between the appearance of adhesion and arthroscopic release, the patients were divided into four groups:<3 months group ( n =12), 3-6 months group ( n =16),>6-12 months group ( n =14), and>12 months group ( n =8). Inter-group comparisons on postoperative ROM, IKDC scores, and Tegner activity scale scores and improvement values of each outcome were conducted. Results: All the patients were followed up for (36.4±19.7) months. Patients gained significant improvement in flexion, extension, IKDC scores, and Tegner scores (125.0°±20.0° vs 75.7°±27.5°, 2.3°±4.8° vs 7.4°±7.3°, 69.8±17.7 vs 51.4±12.8, 4.1±2.1 vs 2.2±1.1) (all P <0.05), while the VAS scores did not show significant improvement. There were no significant differences among different groups in postoperative extension, IKDC scores or Tegner scores, nor in their improvements. However, patients in the ≤6 months group could gain better postoperative flexion and improvement in flexion than those in the >6 months group (129.9°±20.0° vs 118.8°±17.4°, 58.6°±32.8° vs 37.3°±23.1°) ( P <0.05). Conclusions: Arthroscopic release presents a great effect in treating knee adhesion after arthroscopic operation. Once the symptoms of adhesion appear and physical rehabilitation fails to improve the ROM, one should accept early surgical intervention (less than 6 months) for a better outcome.

Objective: To explore the effects of Rhodiola rosea injection on pulmonary shunt and serum interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) levels during single lung ventilation in patients undergoing radical resection of esophageal cancer., Methods: Forty-six patients undergoing radical operation for esophageal cancer were randomized equally into control group and Rhodiola rosea injection group. In the Rhodiola group, 10 mL of Rhodiola rosea injection was added into 250 mL of normal saline or 5% glucose solution for slow intravenous infusion, and normal saline of the same volume was used in the control group after the patients entered the operation room. At T 0 , T 1 and T 3 , PaO 2 of the patient was recorded and 2 mL of deep venous blood was collected for determination of serum TNF-α and IL-6 levels. The incidence of postoperative atelectasis of the patients was recorded., Results: Compared with those in the control group, the patients receiving Rhodiola rosea injection had significantly higher PaO 2 and Qs/Qt at T 1 and T 2 ( P <0.05) and lower serum IL-6 and TNF-α levels at T 3 ( P <0.05). No significant difference in the incidence of postoperative atelectasis was observed between the two groups ( P >0.05)., Conclusion: Rhodiola rosea injection before anesthesia induction can reduce intrapulmonary shunt during single lung ventilation, improve oxygenation, reduce serum IL-6 and TNF-α levels, and alleviate intraoperative lung injury in patients undergoing radical resection of esophageal cancer.

Objective: To analyze the mutation spectrum of 23-site chip newborn deafness genetic screening in Beijing, and to provide basis for genetic counseling and clinical diagnosis and treatment. Methods: The study included 21 006 babies born in Beijing from December 2022 to June 2023. All subjects underwent newborn deafness genetic screening in Beijing Tongren Hospital, covering 23 variants in 4 genes, the GJB2 gene（c.35delG, c.176&#95;191del16, c.235delC, c.299&#95;300delAT, c.109G>A, c.257C>G, c.512insAACG, c.427C>T, c.35insG）, SLC26A4 gene（c.919-2A>G, c.2168A>G, c.1174A>T, c.1226G>A, c.1229C>T, c.1975G>C, c.2027T>A, c.589G>A, c.1707+5G>A, c.917insG, c.281C>T）, Mt12SrRNA （m.1555A>G, m.1494C>T） and GJB3 gene（c.538C>T）. The mutation detection rate and allele frequency were analyzed. Results: The overall mutation detection rate was 11.516%（2 419/21 006）, with the GJB2 gene being the most frequently involved at 9.097%（1 911/21 006）, followed by the SLC26A4 gene at 2.123%（446/21 006）, the GJB3 gene at 0.362%（76/21 006） and Mt12SrRNA at 0.176%（37/21 006）. Among the GJB2 genes, c.109G>A and c.235delC mutation detection rates were the highest, with 6.579%（1 382/21 006） and 1.795%（377/21 006）, respectively. Of the SLC26A4 genes, c.919-2A>G and c.2168A>G had the highest mutation rates of 1.423%（299/21 006） and 0.233%（49/21 106）, respectively. Regarding the allele frequency, GJB2 c.109G>A was the most common variant with an allele frequency of 3.359%（1 411/42 012）, followed by the GJB2 c.235delC at 0.897%（377/42 012） and the SLC26A4 c.919-2A>G at 0.719%（302/42 012）. Conclusion: 23-site chip newborn deafness genetic screening in Beijing showed that GJB2 c.109G>A mutation detection rate and allele frequency were the highest. This study has enriched the epidemiological data of 23-site chip genetic screening mutation profiles for neonatal deafness, which can provide evidence for clinical practice., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objective: To investigate the association between positive anti-thyroid peroxidase antibody (TPOAb) and/or anti-thyroglobulin antibody (TgAb) and the occurrence of thyroid immune-related adverse events (irAEs) in patients with malignant tumors who treated with immune checkpoint inhibitors (ICIs). Methods: A case-control study. A total of 116 patients with malignant tumor who received ICIs treatment and underwent thyroid function evaluation at Peking Union Medical College Hospital from January 2017 to April 2023 were enrolled retrospectively, including 77 males and 39 females, with a median age of ( M ( Q 1 , Q 3 )) 63.0 (55.0, 70.0) years. The patients were divided into the euthyroid group ( n =58) and the thyroid irAEs group ( n =58) according to whether thyroid irAEs occurred after ICIs treatment. The clinical characteristics and baseline anti-thyroid antibodies associated with the occurrence of thyroid irAEs after ICIs treatment in patients with malignant tumors were evaluated. Variables with statistical significance in univariate analysis were included in multivariate logistic regression model to analyze the risk factors for thyroid irAEs in patients with malignant tumors who received ICIs treatment. Results: In irAEs group, therewore 4 (3.4%) cases of clinical thyrotoxicosis, 23(19.8%) cases of subclinical thyrotoxicosis, 23 (19.8%) cases of clinical hypothyroidism, and 8(6.9%) cases of subclinical hypothyroidism. The positive rate of anti-thyroid antibodies at baseline in the thyrioid irAEs group was higher than that in the euthyroid group［16/58（27.6%）vs 3/58（5.2%）， P =0.001］. After at least one course of ICIs treatment, the incidence of thyroid irAEs in patients with positive anti-thyroid antibodies at baseline was 84.2% (16/19), whereas it was 43.3% (42/97) in patients with negative anti-thyroid antibodies( P =0.001). Univariate logistic regression analysis showed that gender ( OR =2.812, 95% CI :1.257-6.293), baseline thyroid autoantibodies were positive ( OR =6.984, 95% CI : 1.909-25.547), baseline TgAb positivity ( OR =8.909, 95% CI : 1.923-41.280), and baseline TPOAb positivity ( OR =7.304, 95% CI : 1.555-34.308) were associated with thyroid irAEs (all P <0.05). Multivariate logistic regression analysis indicated that baseline TgAb positivity ( OR =7.637, 95% CI : 1.617-36.072) was a risk factor for thyroid irAEs ( P =0.01). Conclusions: The incidence of thyroid irAEs is higher in patients who are positive for baseline TPOAb and/or TgAb compared to those who are negative for TPOAb and TgAb. Patients with positive TgAb at baseline are at high risk of developing thyroid irAEs.

Objective: To investigate the association between cytokines and ocular chronic graft-versus-host disease (cGVHD) and identify specific biomarkers for ocular cGVHD to enhance clinical diagnosis, treatment, and evaluation. Methods: A mouse model of cGVHD was established to explore the correlation between cGVHD and serum cytokines. Based on the findings from the animal experiments and literature review, a panel of 16 cytokine combinations was identified. Enzyme-linked immunosorbent assay (ELISA) was used to compare the cytokine concentrations in the serum and tear samples from patients who underwent allogeneic hematopoietic stem cell transplantation from June 2017 to March 2022 at the Medical Center of Hematology, Xinqiao Hospital, Army Medical University. Results: ① Compared with the control group, mice with cGVHD exhibited elevated serum IL-1β, IL-6, IL-8, IL-17, IFN-γ, CX3CL1, CXCL11, CXCL13, CCL11, and CCL19 concentrations (all P <0.05). ② Analysis of the cytokine profiles of the serum and tear samples revealed that compared with patients without ocular cGVHD, those with ocular cGVHD exhibited increased serum IL-8 [ P =0.032, area under the curve (AUC) =0.678]; decreased serum IL-10 ( P =0.030, AUC=0.701) ; elevated IL-8, IFN-γ, CXCL9, and CCL17 in tear samples; and lower IL-10 and CCL19 in tear samples (all P <0.05, all AUC>0.7). Moreover, cytokines in tear samples showed correlations with ocular surface parameters related to ocular cGVHD. Conclusions: Tear fluid demonstrates greater specificity and sensitivity as a biomarker for diagnosing ocular cGVHD than serum biomarkers. Among the identified cytokines in tear samples, IL-8, IL-10, IFN-γ, CXCL9, CCL17, and CCL19 serve as diagnostic biomarkers for ocular cGVHD post-transplantation, offering practical reference value for diagnosis.

In recent years, mRNA drugs have shown a great potential for the treatment of genetic diseases and attracted the attention of many researchers. This article has reviewed the advance in the research of mRNA drugs for the treatment of genetic diseases over the past 30 years, including their mechanisms of action and structure design, with a focus on their advantages as alternative therapies such as high specificity, low dosage, and sustained expression. Meanwhile, challenges for the effective delivery and storage methods for the mRNA drugs are discussed, with an aim to provide guidance for subsequent researches.

Objective: To evaluate the status of, differences in, and factors influencing quality of life (QoL) in patients with chronic graft-versus-host disease (GVHD). Methods: From September 2021 to February 2023, a cross-sectional study of 140 patients with chronic GVHD was conducted at our center. Symptom burden was assessed by the Lee Symptomatology Scale (LSS), and QoL was assessed by the Medical Outcome Study 36-Item Short-Form Health Survey (SF-36) (version 1) and five-level EuroQoL five-dimensional questionnaire (EQ-5D-5L). Results: Data from 140 respondents, including 32 (22.9%) with mild chronic GVHD, 87 (62.1%) with moderate chronic GVHD, and 21 (15.0%) with severe chronic GVHD, were analyzed. Of the respondents, 61.4% were male, and the median transplantation age was 34 (15-68) years. The primary diagnoses were acute myeloid leukemia (50.0%), acute lymphoblastic leukemia (20.0%), and myelodysplastic syndrome (15.0%). The common chronic GVHD-affected organs included the skin in 74 patients (52.9%), the eyes in 57 patients (40.7%), and the liver in 50 patients (35.7%). Among the whole cohort, the eye (20.48±23.75), psychological (16.13±17.00), and oral (13.66±20.55) scores were highest in the LSS group. The physiological function (36.07±11.13), social function (36.10±10.68), and role-emotional functioning (38.36±11.88) scores were lowest in the SF-36 group. The EQ-5D index was 0.764. The total LSS scores for mild, moderate, and severe chronic GVHD were 6.51±6.15, 10.07±5.61, and 20.90±10.09, respectively. The SF-36 physical component scores (PCSs) were 43.12±6.38, 40.73±7.14, and 36.97±6.97, respectively, and the mental component scores (MCSs) were 43.00±8.47, 38.90±9.52, and 28.96±9.63, respectively. The EQ-5D values were 0.810±0.124, 0.762±0.179, and 0.702±0.198, respectively. The multivariate analysis showed that the overall symptom burden ( β =-0.517), oral symptom burden ( β =-0.456), National Institute of Health (NIH) criteria for the eyes ( β =-0.376), and nutrition-related symptom burden ( β =-0.211) were significantly negatively correlated with the PCS. The NIH score ( β =-0.260) was negatively correlated with the MCS score. Oral symptom burden ( β =-0.400), joint/fascia NIH criteria ( β =-0.332), number of involved systems ( β =-0.253), overall NIH criteria ( β =-0.205), and number of immunosuppressants taken ( β =-0.171) were significantly negatively correlated with the EQ-5D score (all P <0.05). Medium to strong correlations were found between the EQ-5D score and the SF-36 score (| r |=0.384-0.571, P <0.001). Conclusions: The QoL of patients with chronic GVHD is impaired, and the more severe the disease, the poorer the QoL. Overall symptom burden, severity of eyes, and oral symptom burden were the most important factors affecting QoL.

Secondary caries is one of the main reasons that affect the service life of the restoration. Compared with primary caries, secondary caries have some particularities in etiology, disease progression, clinical manifestation, clinical diagnosis, treatment and prevention. Starting from the above aspects, combined with the latest basic and clinical research on secondary caries, this paper summarizes and analyzes its pathogenesis and prevention strategies, which will lay a certain foundation for in-depth understanding of secondary caries and promoting its clinical prevention and treatment.

This study observed the expression of ProEXC protein and PRMT5 protein in cervical adenocarcinoma and adjacent tissues, exploring the relationship between the expression of ProEXC and PRMT5 and the auxiliary diagnosis of cervical adenocarcinoma, as well as the clinical pathological parameters. A total of 88 specimens diagnosed with cervical adenocarcinoma from the Second Affiliated Hospital of Soochow University between 2015 and 2020 were collected. Immunohistochemistry was employed to detect the expression of ProEXC and PRMT5 in cervical adenocarcinoma and adjacent tissues, and statistical analysis was conducted. The Cancer Genome Atlas (TCGA) database was utilized to analyze the correlation between the prognosis of cervical adenocarcinoma patients and the expression of ProEXC and PRMT5, as well as their related gene pathways. The GSE39293 dataset from the Gene Expression Omnibus (GEO) was selected to compare the expression levels of ProEXC and PRMT5 in cervical adenocarcinoma cell lines (HELA) before and after antiviral drug treatment.In cervical adenocarcinoma tissues, the expression of ProEXC protein (95.5% vs 4.6%, P <0.001) and PRMT5 protein (81.8% vs 26.1%, P <0.001) was significantly higher than in surrounding adjacent tissues. Their expression was correlated with the tumor's T stage, lymph node metastasis, and human papillomavirus (HPV) infection ( P <0.05). TCGA database analysis showed that patients with high expression of MCM2 in PRMT5 and ProEXC had a lower overall survival rate ( P <0.05), while the expression of TOP2A was not significantly correlated with survival. In the GSE39293 dataset, the expression of MCM2 (9.34 vs 9.68, P <0.001) and PRMT5 (8.16 vs 8.26, P =0.087) in cells decreased after treatment with cidofovir, while TOP2A (8.54 vs 8.42, P =0.056) expression did not change significantly. In the drug-resistant group, the expression of PRMT5 (8.42 vs 8.16, P =0.002) and MCM2 (9.51 vs 9.34, P =0.029) increased, while TOP2A (8.06 vs 8.54, P <0.001) expression decreased. Gene set enrichment analysis (GSEA) suggested that high expression of ProEXC mainly affected the cell cycle pathway, while high expression of PRMT5 mainly affected the RNA splicing pathway.This study found that ProEXC protein and PRMT5 protein were highly expressed in cervical adenocarcinoma tissues, and the high-expression group had a poorer prognosis, showing a certain correlation with the clinical and pathological characteristics of cervical adenocarcinoma. This may be related to their influence on the cell cycle and RNA synthesis pathways, suggesting their potential significant roles in the progression of cervical adenocarcinoma.

Objective: To explore the significance of triggering receptor expressed on myeloid cells-2 (TREM-2) prognostic evaluation so as to provide novel biological markers in clinical practice for patients with hepatitis B virus-related acute-on-chronic liver failure ( HBV-ACLF). Methods: The research subjects of this study were divided into an experimental group and a control group. Fifty HBV-ACLF cases admitted to the Department of Infectious Diseases of the First Affiliated Hospital of Nanchang University from January 1, 2019 to December 31, 2019 were selected as the experimental group. Patients were divided into survival and death groups according to the actual prognosis at discharge (self-discharge and dead patients were considered death groups, and all enrolled patients were hospitalized for more than 28 days). Twenty-five healthy subjects were chosen as the control group. Peripheral venous blood was collected from the experimental group and the control group. Plasma and peripheral blood mononuclear cells (PBMC) were isolated. The concentrations of TREM-2, interleukin (IL)-6, and IL-8 were detected in the plasma. TREM-2 mRNA expression was detected in PBMC. A single blood sample was collected from the control group, whereas five blood samples were dynamically collected from the experimental group on the day of admittance and at 7, 14, 21, and 28 days after treatment commenced. Simultaneously, upon admission, the relevant clinical indicators of HBV-ACLF patients were monitored, including the liver function test: alanine aminotransferase, aspartate aminotransferase, total bilirubin, albumin, coagulation function test: international normalized ratio, prothrombin time, and other indicators. Measurement data were expressed as mean±standard deviation (x±s). Count data were compared and analyzed using the χ(2) test. The intra-group factor mean was compared using a repeated measures ANOVA. The means were analyzed by t-tests between the two groups. Bivariate correlation analysis was used to analyze the correlation between the two variables. The value of TREM-2 as a diagnostic marker was analyzed using the receiver operating characteristic (ROC) curve. Results: The mRNA expression of TREM-2 in the PBMC of HBV-ACLF patients showed a gradually increasing trend at various time points and was significantly higher in the survival group than that of the control group at 28 days ( P < 0.01), while the death group showed a gradually weakening trend at various time points and was significantly lower than the control group at 28 days ( P < 0.01). (1) The levels of TREM-2 in the plasma of HBV-ACLF patients generally showed a gradually increasing trend at various time points in the survival group. The levels on the day of admission and 7, 14, 21, and 28 days after the initiation of treatment were (1.49±0.85), (1.62±0.58), (1.95±0.69), (2.33±0.71), and (2.00±0.67) ng/ml, respectively. The expression of TREM-2 in the death group showed a gradually weakening trend at various time points. The levels on the day of admission and 7, 14, 21, and 28 days after initiation of treatment were (1.40±0.73), (1.59±0.79), (1.56±0.80), (1.05±0.49), and (0.81±0.21) ng/ml, respectively. The survival group's various detection time points were higher than those of the death group, and the difference was statistically significant. The plasma level of TREM-2 in the healthy control group was (1.25±0.35) ng/ml. (2) The concentrations of IL-6 and IL-8 in the plasma of HBV-ACLF patients showed a gradually decreasing trend at various time points in the survival group. The levels on the day of admission and 7, 14, 21, and 28 days after initiation of treatment were (46.70±26.31), (33.98±20.28), (19.07±10.24), (14.76±7.84), (9.12±7.65) and (108.29±47.07), (93.85±26.53), (79.27±34.63), (56.72 ±18.30), (37.81±13.88) pg/ml, respectively. However, its concentration in the death group fluctuated within a relatively high range. The levels on the day of admission and 7, 14, 21, and 28 days after the initiation of treatment were (41.94±24.19), (36.99±19.78), (34.30±20.62), (34.14±14.52), (36.64±23.61) and (104.65±50.16), (112.98±45.03), (118.43±45.00), (111.67±40.44), (109.55±27.54) pg/ml, respectively. (3) Bivariate correlation analysis results indicated that the plasma TREM-2 content was negatively correlated with the plasma levels of pro-inflammatory cytokines IL-6 and IL-8 ( r = -0.224, P = 0.025; r = - 0.223, P = 0.026). ROC curve analysis showed that the mRNA levels of TREM-2 in PBMCs at various time points for prognostic evaluation of HBV-ACLF patients were 1d=0.667, 7d=0.757, 14d=0.979, 21d=0.986, and 28d= 0.993. The areas under the ROC curve of the TREM-2 content in the plasma at various time points were 1d=0.522, 7d=0.571, 14d=0.658, 21d=0.927, and 28d=0.994. Conclusion: TREM-2 mRNA expression in PBMC and TREM-2 content in plasma have a significant relationship to the prognosis of HBV-ACLF patients and may inhibit the liver inflammatory response by regulating the secretion of pro-inflammatory cytokines IL-6 and IL-8. Dynamic monitoring of TREM-2 expression in peripheral blood is favorable for evaluating the prognostic condition of HBV-ACLF patients.

Objective: To analyze the clinical phenotypes and genetic variants of a Chinese pedigree affected with Hereditary coagulation factor Ⅻ (FⅫ) deficiency., Methods: A pedigree presented at the First Affiliated Hospital of Air Force Medical University on December 24,2021 was selected as the study subject. Activated partial thromboplastin time (APTT) and coagulation factor Ⅻ activity (FⅫ:C) were determine by a clotting method, and FⅫ antigen was detected with an ELISA assay. Following the extraction of genomic DNA, all exons and flanking regions of the F12 gene were subjected to Sanger sequencing. Clustalx-2.1-win, PROVEAN and Swiss-PDB Viewer software was used to analyze the conservation of amino acids at the variant sites, impact of of the variants on the amino acid substitutions and the protein structure., Results: The APTT of the proband has prolonged to 70.2 s. Her FⅫ:C and FⅫ:Ag have decreased to 12% and 13%, respectively. DNA sequencing revealed that the proband has harbored c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) heterozygous compound missense variants in exons 5 and 13 of the F12 gene, respectively. Her father and sister were heterozygous carriers for the c.346G>A (p.Gly97Ser) variant, whilst her mother and brother were heterozygous for the c.1583C>A (p.Ser509Tyr) variant., Conclusion: The c.346G>A (p.Gly97Ser) and c.1583C>A (p.Ser509Tyr) compound heterozygous variants of the F12 gene probably underlay the pathogenesis of hereditary coagulation FⅫ deficiency in this pedigree.

Objective: To investigate the effect of semaglutide on high glucose-induced proliferation of cardiac fibroblasts (CFs) and explore its possible mechanism., Methods: Primary mouse CFs, identified by detecting vimentin expression, were stimulated with 25 mmol/L and treated with 5-20 nmol/L semaglutide, and the cell proliferation was examined with CKK-8 assay for concentration screening.Cultured CFs exposed to high glucose (25 mmol/L) were treated with 5 nmol/L semaglutide, and the changes in cell cycle were detected using Cell Cycle Staining Kit; The mRNA expressions of α-smooth muscle actin (α-SMA), transforming growth factor-β1(TGF-β1) and Smad3 were detected using RT-qPCR, and the levels of type Ⅰ collagen (CoLⅠ) and type Ⅲ collagen (CoLIII) in the cell cultures were determined with ELISA., Results: Compared with the control cells, the CFs cultured in high glucose exhibited significantly enhanced proliferative activity ( P <0.05) with increased percentage of S-phase cells.Semagutide treatment obviously inhibited high glucose-induced proliferation of the CFs ( P <0.05) and reduced the percentage of S-phase cells.High glucose stimulation significantly increased the mRNA expressions of α-SMA, CoL Ⅰ and CoLIII in the cells ( P <0.01), which were effectively lowered by semaglutide treatment ( P <0.01).The expressions of TGF-β1 and Smad3 were significantly increased in high glucose-stimulated CFs ( P <0.01) and were lowered by semaglutide treatment ( P <0.01)., Conclusion: Semaglutide can inhibit high glucose-induced proliferation and collagen synthesis in mouse CFs possibly by downregulating the TGFβ/Smad3 signaling pathway.

Objective: To explore the value of the aMAP risk score (age, male, albumin - bilirubin, and platelets) to predict early recurrence within one year after microwave ablation in patients with small hepatocellular carcinoma. Methods: This was a retrospective study that enrolled 142 patients diagnosed with hepatocellular carcinoma who were treated with microwave ablation in the Department of Hepatology Unit of Nanfang Hospital, Southern Medical University from July 2016 to July 2021. The cohort enrolled 121 male and 21 female patients, including 110 patients that were <60 years old. All the patients were followed-up after microwave ablation to evaluate residual tumor and recurrence of tumor by computed tomography or magnetic resonance imaging. The observation indices mainly included general data and imaging data of patients. Using the X-tile tools, patients were divided into two groups: a high aMAP score group and a low aMAP score group. Multivariate Cox regression analysis was conducted for comparison of independent risk factors. Results: Multivariate Cox regression showed that high aMAP score, maximum tumor diameter >20 mm, and high AFP were the independent risk factors of early recurrence (all P <0.05). Kaplan-Meier survival curves showed that the median recurrence-free survival was 25.5 months in the low aMAP score group and 6.1 months in the high aMAP score group ( P =0.001). Conclusions: The aMAP score could predict the early recurrence within 1 year of small hepatocellular carcinoma after microwave ablation. Patients with high aMAP score should undergo rigorous postoperative follow-up evaluations..

The aim of this study was to investigate the growth characteristics of primarily cultured astrocytes and microglia of different generations and then optimize the method for obtaining primary astrocytes and microglia effectively. Primarily cultured microglia were isolated and purified from the cortices of neonatal mice. The proliferation curve of mixed glia cells was measured by Cell Counting Kit-8 (CCK-8) assay, the proportion of astrocytes and microglia was detected by flow cytometry, and the polarization of the two types of glia cells was identified by immunofluorescence staining. Cell growth results showed that the mixed glia cells of P0 and P1 generation had the best proliferative activity; 97.3% of the high purity microglia could be obtained by mechanical shaking at 170 r/min for 30 min, and there was no significant difference in the morphology of ionized calcium-binding adapter molecule 1 (Iba-1) positive microglia and the proportion of M1 and M2 phenotype among the P0, P1 and P2 generations of microglia isolated by the above methods. Moreover, 95.7 % of the high purity astrocytes could be obtained by astrocyte cell surface antigen-2 (ACSA-2) magnetic beads separation, and there was no significant difference in the morphology of glial fibrillary acidic protein (GFAP) positive astrocyte and the proportion of A1 and A2 phenotype among the P0, P1 and P2 generations of astrocyte isolated by the above methods. Taken together, this study observed the growth characteristics of primarily cultured microglia and astrocyte in vitro , and then proved the best generations for purifying microglia and astrocytes. Finally, we optimized the methods of obtaining microglia and astrocyte, and verified that continuous culture within 2 generations will not affect the functional phenotypes of glia cells. These results provide technical support for studying the molecular mechanism of inflammation-associated diseases in nervous system.

Objective: To investigate the predictive value of plasma exosomal microRNA (miR)-124-3p in the risk of chronic cerebral hypoperfusion (CCH). Methods: A case-control study. Thirty patients who were diagnosed with CCH (CCH group) based on cranial artery spin labeling (ASL) in the neurology outpatient clinic of Sichuan Provincial People's Hospital from March 2022 to June 2022 and 30 healthy volunteers (control group) were included. Age, gender, smoking history, alcohol consumption history, diabetes history, hypertension, hyperlipidemia history, uric acid, fasting blood glucose, homocysteine and plasma exosomal miR-124-3p expression level were compared between the two groups. Comparisons of categorical variables were analyzed by either χ 2 test or Fisher's exact test. If the data of continuous variables followed a normal distribution, they were expressed as mean±standard deviation (SD) and compared by t -test for two independent samples; otherwise, the data were expressed as M ( Q 1 , Q 3 ), and analyzed by Mann-Whitney U test for comparison between two groups. The correlation between cerebral blood flow and exosomal miR-124-3p levels was analyzed by Pearson's correlation. Binary multifactorial logistic regression analysis was used to determine the risk factors associated with CCH, and corresponding odds ratios ( OR ) and 95% confidence intervals ( CI ) were calculated. P <0.05 was considered significant. Results: There was no significant difference in age (64±8 vs. 60±8 years old), gender (33.3% vs. 30.0%), history of smoking (20.0% vs. 3.3%), alcohol consumption (20.0% vs. 6.7%), diabetes mellitus (13.3% vs. 13.3%), hypertension (53.3% vs. 30.0%), history of hyperlipidemia (46.7% vs. 36.7%), uric acid (288±60 vs.319±67 μmol/L), and fasting glucose [4.99(4.63, 5.91) vs. 5.28(5.09, 6.05) mmol/L] and homocysteine [11.35(10.18, 13.08) vs.11.00(9.78, 13.03) μmol/L] between the CCH and control groups ( P >0.05). Plasma exosomal miR-124-3p expression was significantly higher in the CCH group than in the control group [13.08 (8.59, 21.55) vs. 2.85 (1.44, 5.10), respectively; U =169.50, P <0.001]. Pearson's correlation test showed that the level of exosomal miR-124-3p was negatively correlated with cerebral blood flow in the hypoperfused region in patients with CCH ( r =-0.932, P <0.001). Multi-factor logistic regression analysis showed that plasma exosomal miR-124-3p was independently associated with the risk of CCH ( OR =1.169,95% CI 1.063-1.286, P =0.001). Conclusions: The expression of plasma exosomal miR-124-3p is negatively correlated with cerebral blood flow in areas of low perfusion and is an independent risk factor for CCH. Plasma exosomal miR-124-3p may thus serve as a valid biomarker for CCH risk prediction.

Objective: To investigate the value of net water uptake (NWU) for predicting early neurological improvement (ENI) after endovascular treatment in patients with acute anterior circulation large vessel occlusion stroke. Methods: A case-control study. A total of 132 patients (80 men, 52 women, median age 68 years) with acute anterior circulation large vessel occlusive stroke receiving endovascular treatment were retrospectively analyzed at Jinling Hospital from October 2014 to September 2019. Patients were divided into two groups based on the occurrence of ENI, which was defined as either an improvement of NIHSS score of ≥4 points, or an NIHSS score of 0 or 1 at 24 hours after endovascular treatment. The rank sum test, Chi square test, and other methods were used to compare differences in baseline characteristics between the two groups. Logistic regression analysis was used to investigate independent predictors of postoperative ENI. Receiver operating characteristic curve analysis used to assess the capacity of NWU to predict ENI. Results: Of the 132 patients in the study, ENI occurred in 47 and did not occur in 85. In multivariate logistic regression analysis age [odds ratio ( OR )=0.940, 95% confidence interval ( CI ) 0.903-0.979, P =0.003], time from stroke onset to puncture ( OR =0.995, 95% CI 0.991-0.999, P =0.025), time from puncture to recanalization/end of operation ( OR =0.985, 95% CI 0.974-0.996, P =0.007), NWU ( OR =0.762, 95% CI 0.620-0.937, P =0.010), and mTICI ( OR =1.644, 95% CI 1.043-2.590, P =0.032) were predictive factors for ENI. Receiver operating characteristic curve analysis indicated that NWU could effectively predict ENI (area under the curve=0.642, 95% CI 0.543-0.741, P =0.007), and prediction accuracy was improved when it was combined with other clinical parameters. Conclusion: NWU is an independent predictor of ENI in patients with acute anterior circulation large vessel occlusive stroke undergoing endovascular treatment.

Objective: To investigate the relationship between nutritional status, body composition and symptoms of Parkinson's disease (PD). Methods: The study was conducted among 102 PD patients between November 2020 to April 2021 in the outpatient and inpatient of Neurology department of the Second Affiliated Hospital of Suzhou University. Basic data, such as age, gender, course of disease and Hoehn-Yahr (H-Y) stage of the patients, were collected. In the "open" state, the Unified Parkinson's Disease Rating Scale (UPDRS) and other scales were used to evaluate the clinical symptoms of PD patients. The nutritional status of PD patients was evaluated by the micro-nutrition rating Scale (MNA), and the body composition data of PD patients was measured by the body composition analyzer.The patients were divided into three groups according to the MNA: well-nourished group(45 cases), malnutrition-risk group (43 cases)and malnutrition group(14 cases). Body composition, laboratory tests, bone density, and symptoms of PD were compared among the three groups. Results: Among 102 PD patients, 48 were males (47.1%) and 54 were females (52.9%), aged 42-86 (66±9) years old. Compared with the malnutrition-risk group, lymphocytes in the malnutrition group [(1.45±0.48) × 10 9 /L vs (1.76±0.43)×10 9 /L], uric acid [(227±54) μmol/L vs (282±63) μmol/L] were all low, and the difference was statistically significant (all P <0.05). Compared with the well-nourished group, hemoglobin [(125±17) g/L vs (136±14) g/L], prealbumin [(0.23±0.05) g/L vs (0.27±0.06) g/L], and uric acid [(227±54) μmol/L vs (312±76) μmol/L] and Retinol binding protein [(33±7) mg/L were lower than (39±10) mg/L] in the malnutrition group, the difference was statistically significant ( P <0.05). Except for the visceral fat area and body fat percentages, there was no significant difference in body composition indexes and bone mineral density T-value between the malnutrition-risk and malnutrition groups ( P <0.05). Compared with the well-nourished group, the body fat [(16±6) kg vs (20±6) kg], the percentage of body fat [(26±9)% vs (29±7)%], the waist-hip ratio [(0.86±0.05) vs (0.89±0.05)], and the upper arm circumference [(29.00±2.59) cm vs (30.74±2.75) cm] in the malnutrition risk group were lower, and the difference was statistically significant ( P <0.05). There were statistically significant differences in all body composition indicators and T-values of bone density between the malnourished and well nourished groups (all P <0.05). The MNA score of PD patients was negatively correlated with UPDRS Ⅰ, UPDRS Ⅱ, and UPDRS Ⅳ scores ( r =-0.347, -0.364, -0.303, all P <0.05); Body composition indicators: total body water and inorganic salts were negatively correlated with UPDRS-I ( r =-0.206, -0.223, all P <0.05), and body fat was negatively correlated with levodopa Equivalent dose (LED) ( r =-0.209, P <0.05) Conclusions: The malnutrition risk and incidence of malnutrition in PD patients are high; lymphocyte, uric acid, hemoglobin, Retinol binding protein, body composition and bone mineral density were low in malnutrition group. MNA score of PD patients was negatively correlated with Parkinson's disease symptoms.

Objective: To investigate the status of knowledge, attitude and practice about first aid and influencing factors in key population, those who have frequent contacts with people and might be "first aid" promoter in general population of Beijing, and provide evidences for the promotion of first aid. Methods: This study was a cross-sectional survey based on the "Emergency Rescue Capacity Training Project". Using cluster sampling, we recruited 9 591 participants after the training in Beijing for survey with a self-designed questionnaire from October 2021 to March 2022. Results: In 9 591 participants, 98.58% knew the emergency call number, while only 32.00% knew how to identify sunstroke. The awareness rate of the definition of first aid and legal disclaimer were lower (63.61%, 75.91%). People's willingness to give first aid to others, including relative, acquaintance, stranger and vagrant, were different ( χ 2 = 822.82, P <0.001). People were more likely to give first aid to relative, acquaintance and stranger compared with vagrant ( P <0.05). With the increase of psychological distance, the willingness to give first aid decreased ( Z =-26.57, P <0.001). According to the results of Logistic regression analysis, older age, higher annual family income and higher awareness of first aid related knowledge were contributing factors for giving first aid. In 1 529 people who met emergency, only 66 people (4.32%)did not give any first aid. Conclusions: The key population in Beijing has high awareness of first aid related knowledge and positive attitude of first aid after training. A high proportion of people performed first aid to others. Age, annual family income and awareness of first aid related knowledge were contributing factors for giving first aid.

Objective: To analyze the intake of energy and macronutrients in the elderly aged 75 years and above in China., Methods: The data was sourced from the China National Chronic Non-communicable Disease and Nutrition Surveillance, which adopted a multi-stage stratified clustered random sampling method and selected 298 monitoring points from 31 provinces across the country to carry out chronic non-communicable disease and nutrition surveillance of Chinese adults. The condiments weighting method and 3-day 24-hour dietary review method were used to collect dietary data for residents. Based on the dietary survey result of 3368 elderly people aged 75 years and above in the surveillance, the intake of energy and macro nutrients of elderly people was analyzed., Results: Among the elderly aged 75 years and above included in the analysis, there were 1727 males and 1641 females, 1511 people in urban areas and 1857 people in rural areas, 1956 people aged 75-79, 1412 people aged ≥ 80. The average energy intake of the elderly aged 75 years and above in China was(1601.0±473.4)kcal, and the average intakes of carbohydrate, protein and fat were(219.6±76.6)g, (48.2±18.6)g and(60.2±31.5)g, respectively. The energy supply ratios of carbohydrate, protein and fat were 54.9%, 12.0% and 33.1% respectively. The carbohydrate intake and its energy supply ratio of the urban elderly((200.0±74.0)g and 51.8%) were significantly lower than those of the rural elderly((235.5±75.0) and 57.4%), while the protein intake and its energy supply ratio((50.2±18.9)g and 13.0%), fat intake and its energy supply ratio((61.2±30.2)g and 35.2%)of the urban elderly were significantly higher than those of the rural elderly((46.5±18.2)g and 11.2% for protein, and(59.4±32.5)g and 31.4% for fat). According to Chinese dietary reference intake standard, only 28.1% of the elderly aged 75 and above reached the recommended value of energy, 71.9% of the elderly did not take enough energy, the proportion of insufficient protein intake was 72.2%, 68.5% in urban areas and 75.2% in rural areas, the proportion of people with fat to energy ratio more than 30% was 58.5%, 65.3% in urban areas and 52.9% in rural areas., Conclusion: The energy intake of the elderly aged 75 years and above in China was insufficient, the protein intake was low, the fat to energy ratio was too high, and the dietary structure was unreasonable.

Objectives: The intestinal microbial characteristics of patients with simple cerebral infarction (CI) and CI complicated with Type 2 diabetes mellitus (CI-T2DM) are still not clear. This study aims to analyze the differences in the variable characteristics of intestinal flora between patients simply with CI and CI-T2DM., Methods: This study retrospectively collected the patients who were admitted to the Affiliated Hospital of Putian University from September 2021 to September 2022. The patients were divided into a CI group ( n =12) and a CI-T2DM group ( n =12). Simultaneously, 12 healthy people were selected as a control group. Total DNA was extracted from feces specimens. Illumina Novaseq sequencing platform was used for metagenomic sequencing. The Knead Data software, Kraken2 software, and Bracken software were applied for sequencing analysis., Results: At phylum level, the average ratio of Firmicutes, Bacteroidetes, and Proteobacteria in the CI-T2DM group were 33.07%, 54.80%, and 7.00%, respectively. In the CI group, the ratios of each were 14.03%, 69.62%, and 11.13%, respectively, while in the control group, the ratios were 50.99%, 37.67%, and 5.24%, respectively. There was significant differences in the distribution of Firmicutes ( F =6.130, P =0.011) among the 3 groups. At the family level, compared with the CI group, the relative abundance of Eubacteriaceae ( t =8.062, P <0.001) in the CI-T2DM group was significantly increased, while Corynebacteriaceae ( t =4.471, P <0.001), Methanobacteriaceae ( t =3.406, P =0.003), and Pseudomonadaceae ( t =2.352, P =0.028) were decreased significantly. At the genus level, compared with the CI group, there was a relative abundance of Cutibacterium ( t =6.242, P <0.001), Eubacterium ( t =8.448, P <0.001), and Blautia ( t =3.442, P =0.002) in the CI-T2DM group which was significantly increased. In terms of Methanobrevibacter ( t =3.466, P =0.002), Pyramidobacter ( t =2.846, P =0.009) and Pseudomonas ( t =2.352, P =0.028), their distributions were decreased significantly in the CI-T2DM group. At the species level, compared with the CI group, the relative abundance of Cutibacterium acnes ( t =6.242, P <0.001) in the CI-T2DM group was significantly increased, while Pseudomonas aeruginosa ( t =2.352, P =0.028) was decreased significantly. Still at the genus level, linear discriminant analysis effect size (LEfSe) analysis showed that the distributions of Pseudomonas and Blautia were determined to be the most significantly different between the CI-T2DM and the CI group. At the species level, the total number of operational taxonomic units (OTUs) in the 3 groups was 1 491. There were 169, 221, and 192 kinds of OTUs unique to the CI-T2DM, CI, and control group, respectively., Conclusions: From phylum level to species level, the composition of intestinal flora in the patients with CI-T2DM is different from those in the patients simply with CI. The change in the proportion of Firmicutes , Bacteroidetes and Proteus compared with the healthy population is an important feature of intestinal flora imbalance in the patients with CI and with CI-T2DM. Attention should be paid to the differential distribution of Bacteroides monocytogenes and butyrate producing bacteria.

Objective: To explore the association of baseline venous outflow (VO) profile with futile recanalization in patients with acute ischemic stroke due to large vessel occlusion in the anterior circulation. Methods: The clinical and imaging data of patients presented with large vessel occlusion in the anterior circulation and underwent emergency endovascular treatment at Huashan Hospital from March 2015 to December 2021 were retrospectively included in the study. All patients were assessed by the National Institutes of Health Stroke Scale (NIHSS) at baseline.Baseline VO profile was determined by a 0-6 semi-quantitative scoring system which assessed opacification of the ipsilateral superficial middle cerebral vein, vein of Labbé and vein of Trolard on single-phase CT angiography (CTA) images. A 90-day telephone follow-up was performed and functional outcome was evaluated by 90 d modified Rankin scale (mRS). Successful recanalization of the occluded artery, defined as final modified Thrombolysis in Cerebral Infarction scale (mTICI) 2b-3, was considered to be futile if patients failed to achieve functional independence (90 d mRS 0-2). Univariate analysis and receiver operating characteristic (ROC) curve analysis were used to explore the optimal cutoff predicting functional indendence. The associations between cortical VO in ischemic area and futile recanalization were evaluated using binary logistic regression analysis and backward linear regression based on Akaike information criterion (AIC). Results: A total of 150 patients met the inclusion criteria, with 92 males (61.3%) and 58 females (38.7%). The median age [ M ( Q 1 , Q 3 )]was 71 (61, 78) years and the median baseline National Institute of Health Stroke Scale (NIHSS) score [ M ( Q 1 , Q 3 )]was 15 (11, 18). Univariate logistic regression analysis showed that baseline VO was associated with 90-day functional independence ( OR =1.587, 95% CI : 1.185-2.1873). After classifying VO into two categories based on the receiver operating characteristic (ROC) curve, VO≥4 showed an independent association with functional independence ( OR =5.133, 95% CI : 1.530-9.361) after adjusting for age, baseline glucose, NIHSS score, baseline infarct core volume, modified Tan (mTan) score, hypoperfusion intensity ratio (HIR), etiological classification, recanalization, presence of any hemorrhagic transformation and final infarct volume. Futile recanalization was observed in 44 (48.4%) of the 91 patients who achieved successful recanalization. Stepwise logistic regression revealed that VO≥4 was an independent protective factor for futile recanalization ( OR =0.234, 95% CI : 0.054-0.878). Moreover, in patients with mTICI 2c-3, VO≥4 showed a stronger association with futile recanalization ( OR =0.018, 95% CI : 0-0.255). Conclusion: A favorable VO profile at onset protects against futile recanalization in patients with large vessel occlusion in the anterior circulation, and provides a simple and feasible auxiliary method for predicting the prognosis of endovascular therapy in such patients.

Objectives: This study aimed to evaluate the efficacy and long-term stability of tunnel technique (TUN) and coronally advanced flap (CAF) combined with connective tissue graft (CTG) in treating gingival recession., Methods: Databases including PubMed, Web of Science, Embase, and CNKI were electronically searched to collect randomized controlled trial (RCT) of CAF+CTG compared to TUN+CTG in the treatment of Miller class Ⅰ or Ⅱ gingival recession on September 1, 2022., Results: There were 8 RCTs with 305 patients (454 recession sites) participating. The results of the Meta-analysis revealed that, in terms of mean root coverage (MRC) of main indicators, no significant difference was found between the CAF group and the TUN group in both short- and long-term results, which were [MD: 1.45%, 95%CI (-2.93%, 5.82%), P =0.52] and [MD: -0.70%, 95%CI (-6.41%, 5.00%), P =0.81]. However, the CAF group outperformed the TUN group in the long term [MD: 5.69%, 95%CI (0.87%, 10.50%), P =0.02], and the results of complete root coverage (CRC) analysis were similar to those of MRC. In the short term, the TUN group grew keratinized gingiva significantly faster than the CAF group [MD: -0.38 mm, 95%CI (-0.67 mm, -0.10 mm), P =0.008]. Long-term findings revealed no significant difference between the two groups [MD: -0.26 mm, 95%CI (-0.94 mm, 0.43 mm), P =0.46]. The TUN group's secondary index root coverage esthetic score (RES) was statistically significantly higher than the CAF group's [MD: 0.62, 95%CI (0.28, 0.96), P =0.000 3]. Given that there were few results included in the literature and the heterogeneity was too great, no significant difference was observed in the postoperative VAS pain index score [MD: 0.53, 95%CI (-1.96, 3.03), P =0.68]., Conclusions: This study discovered that both CAF+CTG and TUN+CTG can achieve good root coverage in treating gingival recession, with CAF outperforming TUN and both groups achie-ving good long-term stability. After the operation, the TUN group had a higher RES than the CAF group. Given the limitations of this study, more high-quality studies are needed in the future to demonstrate the efficacy of TUN in gingival retraction surgery.

Objective: To explore the correlation between the attachment type of lateral pterygoid muscle (LPM) and the position of temporomandibular joint (TMJ) disc in patients with temporomandibular disorders (TMD) by using wireless amplified magnetic resonance imaging detector (WAND) coupled with conventional head and neck joint coil for high resolution imaging of TMJ. Methods: Eighty-five patients with TMD diagnosed by oral and maxillofacial surgeons of Guizhou Provincial People's Hospital from October 2019 to January 2022 were collected. A total of 160 TMJ were included. There were 16 males and 69 females, aged (32.7±14.2) years. All patients were scanned with open, closed oblique sagittal and coronal WAND coupled head and neck coils with bilateral TMJ. Based on TMJ and LPM high resolution imaging, to explore the correlation between LPM attachment types and the position of TMJ disc in TMD patients, and to evaluate the potential clinical value of LPM attachment types in TMD patients. χ 2 test and Pearson correlation analysis were used to evaluate the correlation between LPM attachment type and TMJ disc location. Results: There were three types of LPM attachment: type Ⅰ in 51 cases [31.9% (51/160)], type Ⅱ in 77 cases [48.1% (77/160)] and type Ⅲ in 32 cases [20.0% (32/160)]. There was a significant correlation between the type of LPM attachment and the position of articular disc ( χ 2 =28.20, P =0.002, r =0.776). There was no statistical significance between the type of LPM attachment and the reversible displacement of articular disc ( χ 2 =0.24, P =0.887, r =0.825). Conclusions: There is a correlation between the attachment type of LPM and the position of the disc in TMD patients. WNAD coupled with conventional head and neck joint coil TMJ high resolution scan can provide reliable imaging evidence for TMD patients in evaluating the type of LPM attachment and the location of disc.

Mucosal-associated invariant T cells (MAIT cells) are a class of innate immune-like T cells that are widely distributed in the human body. During infection, antigens such as vitamin B metabolites synthesized by microorganisms are presented to MAIT cells by MR1 (major histocompatibility complex class Ⅰ-like molecule), and MAIT cells are activated and exert antibacterial, antiviral, anticancer and tissue repair effects by releasing cytokines and cytotoxic molecules. Animal and in vitro studies have shown that the number of MAIT cells in the peripheral blood of patients with active tuberculosis is reduced and the cells exhibit a functional exhaustion phenotype. MAIT cells are activated by Mycobacterium tuberculosis antigens and produce inflammatory cytokines such as TNF-α, IFN-γ and cytotoxic molecules such as granzyme B to exert anti-tuberculosis effects that are MR1-dependent and cytokine-dependent. In addition, MAIT cells can also act as a bridge between innate and acquired immunity by initiating a conventional T-cell response. Currently, there are also relevant experimental studies on vaccines and drugs targeting MAIT cells, which show great potential in the prevention and control of tuberculosis. In this article, we will review the discovery and grouping, development and activation of MAIT cells, their role in Mycobacterium tuberculosis infection, and their application in tuberculosis prevention and treatment, in order to provide new immunological targets for tuberculosis prevention and treatment.

Objective: To analyze the gene variation of a genetic coagulation factor Ⅴ (FⅤ) deficiency pedigree and explore the molecular pathogenesis. Methods: The proband was a 32 years old female. The patient was prone to nose bleeding since childhood which was usually self-healed. On March 10, 2021, the proband went to the First Affiliated Hospital of Air Force Medical University for treatment of knee hematoma caused by a fall. None of the family members reported any history of bleeding. The prothrombin time (PT), activated partial thromboplastin time (APTT) and FⅤ activity (FⅤ: C) were detected by clotting method and the FⅤ antigen (FⅤ: Ag) was tested with enzyme-linked immunosorbent assay (ELISA). All exons and flanks of F5 gene were determined by Sanger sequencing. Clustalx-2.1-win, PolyPhen-2 and Swiss-PDBViewer software were used to analyze the conservatism of missense variation sites, whether the variations were harmful and their influences on protein structure and function. MutationTaster and NetGene2 software were used to analyze whether the splice site variation was harmful and its effect on the splice site. Results: The PT and APTT of the proband prolonged to 24.0 s and 69.8 s, respectively. The FⅤ: C and FⅤ: Ag decreased to 6% and 9%, respectively. There were compound heterozygous variations in F5 gene, which included c.911G>A heterozygous missense variation in exon 6 leading to p.Gly276Glu variation and c.5208+1G>A heterozygous missense variation in intron 15. The father and daughter had the p.Gly276Glu heterozygous variation. Her mother and son had the c.5208+1G>A heterozygous variation. Software analysis results of p.Gly276Glu heterozygous variation showed that Gly276 was conserved among homologous species, the variation was harmful, and it could affect the local structure and function of the protein. The c.5208+1G>A heterozygous variation was deleterious and resulted in the disappearance of the splice site, thereby affecting the protein function. Conclusion: The p.Gly276Glu and c.5208+1G>A compound heterozygous variants are deleterious variants associated with the patient's disease and may be the molecular pathogenesis of inherited FⅤ deficiency in this family.

Objective: To explore disease characteristics of primary sclerosing cholangitis (PSC) and inflammatory bowel disease (IBD) and compare the differences between PSC with and without IBD. Methods: Study design was cross sectional. Forty-two patients with PSC who were admitted from January 2000 to January 2021 were included. We analyzed their demographic characteristics, clinical manifestations, concomitant diseases, auxiliary examination, and treatment. Results: The 42 patients were 11-74(43±18) years of age at diagnosis. The concordance rate of PSC with IBD was 33.3%, and the age at PSC with IBD diagnosis was 12-63(42±17) years. PSC patients with IBD had higher incidences of diarrhea and lower incidences of jaundice and fatigue than in those without IBD (all P <0.05). Alanine aminotransferase, total bilirubin, direct bilirubin, total bile acid and carbohydrate antigen 19-9 levels were higher in PSC patients without IBD than in those with IBD (all P <0.05). The positive rates for antinuclear antibodies and fecal occult blood were higher in PSC patients with IBD than in those without IBD (all P <0.05). Patients with PSC complicated with ulcerative colitis mainly experienced extensive colonic involvement. The proportion of 5-aminosalicylic acid and glucocorticoid application in PSC patients with IBD was significantly increased compared with that of PSC patients without IBD ( P =0.025). Conclusions: The concordance rate of PSC with IBD is lower at Peking Union Medical College Hospital than in Western countries. Colonoscopy screening may benefit PSC patients with diarrhea or fecal occult blood-positive for early detection and diagnosis of IBD.

Objective: To get a better knowledge of the current situation of screen time among primary and secondary school students in all provinces of China from 2016 to 2017., Methods: Data was from the China National Nutrition and Health Surveillance of Children and Lactating Women(2016-2017).275 monitoring points were selected from 31 provinces of China by multi-stage stratified cluster random sampling. A total of 280 primary and secondary school students from 2 primary schools, 2 junior middle schools and 1 senior high school were randomly selected from each monitoring point to complete the survey.73629 primary and secondary school students(except grade 9 and grade 12) were included in this study., Results: From 2016 to 2017, the average daily screen time of Chinese primary and secondary school students was(1.65±1.54) hours, M(P25, P75) was 1.29(0.58, 2.21) h. In terms of provinces, the average daily electronic screen time of primary and secondary school students in Beijing, Tianjin, Jilin, Fujian, Guangdong and Hainan is more than 2 hours. In terms of rural and urban areas, the screen time of students in Beijing&apos;s rural and urban areas, Tianjin&apos;s rural areas, Hebei&apos;s urban areas, Liaoning&apos;s rural areas, Jilin&apos;s rural areas, Fujian&apos;s urban areas, Guangdong&apos;s urban areas, Guangxi&apos;s urban areas, Hainan&apos;s rural and urban areas, and Xinjiang&apos;s urban areas all exceeds 2 hours/day. Besides, screen times of rural primary and secondary school students in Beijing(Z=2.62, P&lt;0.01), Tianjin(Z=5.94, P&lt;0.01), Liaoning(Z=11.56, P&lt;0.01), Jilin(Z=-7.59, P&lt;0.01), Shanghai(Z=3.19, P&lt;0.01), Jiangsu(Z=12.00, P&lt;0.01), Zhejiang(Z=-4.80, P&lt;0.01), Anhui(Z=-4.67, P&lt;0.01), Jiangxi(Z=-3.29, P=0.01), and Sichuan(Z=-4.53, P&lt;0.01) are longer than that of urban students., Conclusion: There are urban-rural differences in the average daily electronic screen time and different types of electronic screen time of primary and secondary school students in China&apos;s provinces from 2016 to 2017.

Objective: To perform an epidemiological investigation on a case of visceral leishmaniasis reported from Shule County, Kashi Prefecture, Xinjiang Uygur Autonomous Region in 2021, so as to provide insights into differential diagnosis of visceral leishmaniasis during the COVID-19 pandemic., Methods: The epidemiological history of this case was collected, and the case was diagnosed for Leishmania infection with the immunochromatographic (rK39) strip test, bone marrow smear microscopy and PCR assay., Results: The patient had typical clinical symptoms of leishmaniasis, including irregular fever, hepatosplenomeg- aly, low serum albumin and elevated globulin. Bone marrow smear microscopy identified L. donovani amastigotes, and both rK39 strip test and PCR assay were positive, while the case was tested negative for SARS-CoV-2. COVID-19 was therefore excluded and visceral leishmaniasis was diagnosed. Standard full-dose treatment with sodium stibogluconate was given, and no Leishmania was found on blood smears during the reexamination. No recurrence was found during the followup after discharge for hospital., Conclusions: During the COVID-19 pandemic, it is recommended to increase the perception of differential diagnosis of visceral leishmaniasis among first-contact doctors, and reinforce the capability of differential diagnosis and health education of visceral leishmaniasis among medical and healthcare institutions at all levels, to prevent missed diagnosis and misdiagnosis of visceral leishmaniasis.

Objective: To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC)., Methods: A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing., Results: The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic., Conclusion: The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.

Invasive fungal infection (IFI) is one of the serious complications in burn patients. The gradual development and application of broad-spectrum antibiotics in recent years has led to a serious dysbiosis of the flora, while the widespread prophylactic use of antifungal drugs has led to an increasing number of drug-resistant fungi. The clinical treatment of IFI is difficult and the prognosis is poor. The mortality of burn patients caused by IFI is increasing year by year. This paper reviews the epidemiologic characteristics, related risk factors, diagnostic methods, and treatment progress of IFI after burns, aiming to provide new ideas and reference for the prevention and treatment of IFI after burns.

Objective: To investigate the clinical audiological characteristics of children referred from maternal and child institutions and analyze the high risk factors of hearing loss, so as to provide scientific basis for further improvement of children's ear and hearing care. Methods: The subjects of this study were 868 children who were referred by maternal and child institutions in Beijing to the otology outpatient of Beijing Tongren Hospital, Capital Medical University for hearing diagnosis. All subjects underwent acoustic immittance, auditory brainstem response, distortion products otoacoustic emission and other audiological tests. Children were divided into groups according to the age of diagnosis: 0-<3 months group（242 cases）, 3-<6 months group（328 cases）, 6-<12 months group（180 cases）, ≥12 months group（118 cases）, the results of hearing diagnosis, hearing loss degree and types, the relationship between high risk factors and hearing loss in each group were compared and analyzed. Results: The age of diagnosis of 868 children was（7.13±8.29） months. 488 cases with hearing loss accounted for 56.22% and 380 cases with normal hearing accounted for 43.78%. Proportion of different degree of hearing loss of 792 ears from high to low was as follows: mild, 366 ears（46.21%）; moderate, 214 ears（27.02%）; severe, 151 ears（19.07%）; profound, 61 ears（7.70%）. There were statistically significant differences in the proportion of different hearing loss degree among 0-<3 months group, 3-<6 months group, 6-<12 months group and ≥12 months group（ P <0.001）. Pairwise comparison between groups showed that the proportion of mild hearing loss of 0-<3 months group was higher than that in the other three groups（ P <0.05）, there was no significant difference of moderate hearing loss among all groups（ P >0.05）, the proportion of severe hearing loss of ≥12 months group was higher than that of 0-<3 months group（ P <0.05）. The proportion of profound hearing loss with 0-<3 months group was lower than the other three groups（ P <0.05）. In 792 ears with hearing loss, sensorineural hearing loss accounted for 67.42%, conductive hearing loss accounted for 20.71% and mixed hearing loss accounted for 11.87%. Among 98 cases with high risk factors for hearing loss, 58 cases（59.18%） were diagnosed with hearing loss. The incidence of hearing loss with high risk factors ranked from high to low was: craniofacial malformation（93.75%）, family history/congenital genetic syndrome（61.11%）, neonatal intensive care unit（NICU） hospitalization（46.43%） and others（20.00%）. Conclusion: Referrals from maternal and child institutions play an important role in the early detection of children with mild to moderate sensorineural hearing loss. Children with craniofacial malformation, family history/congenital genetic syndrome, hospitalization history of NICU and other high risk factors have a high incidence of hearing loss and should be attached with great importance., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objective: To detect and analyze the characteristics of oral microbiota in species composition, function and metabolism among caries, periodontitis and oral healthy individuals, hunting for the microbiome-derived biomarkers with specificity and sensitivity to estimate the occurrence of these two diseases. Methods: Saliva samples were collected from 10 patients with high caries risk [decayed-missing-filled teeth (DMFT)≥6, HC group] in Department of Endodontics, 10 patients with periodontitis of grade Ⅱ A-Ⅲ C (PG group) in Department of Periodontology and 10 oral healthy individuals (HH group) from School of Stomatology, The Fourth Military Medical University during from March 2022 to June 2022. A baseline examination was conducted on all participants, including their oral conditions of caries and periodontal health. Metagenomic sequencing (Illumina PE150 platform) and liquid chromatography-mass spectrometry were used to detect microorganisms and their metabolites in the samples respectively. The sequencing data were analyzed to obtain the information of microbial taxonomic composition, functional genes and metabolites in each group of samples. The basic oral conditions and saliva samples of subjects in each group were evaluated and collected by the same professional endodontist. Results: There were no significant difference in baseline characteristics such as age and sex among the subjects in each group ( P> 0.05). DMFT in HC group (9.0±1.7) was significantly higher than that in HH group (0) and PG group (0) ( F= 243.00, P< 0.001). Sequencing data analysis showed that the taxonomic compositions of salivary microbiota in each group were mainly Firmicutes, Bacteroidetes, Proteobacteria , Actinobacteria and Fusobacteria at the phylum level, and Streptococcus, Neisseria, Rothia, Prevotella at the genus level. Differential analysis showed that, compared with the HH group, HC group and PG group had significant differences in taxonomic composition ( P< 0.05), and the most significant among them was Prevotella . At the species level, Prevotella pallens was the most significant change in HC group, and Porphyromonas gingivalis in PG group. Metabolite analysis showed that there were significant differences in metabolites between HC group and PG group. The results showed that, compared with the HH group, the most significant metabolite change was 3-hydroxy-1, 5-diphenylpentan-1-one in HC group ( P= 0.001) and N1 acetylspermine in PG group ( P= 0.002) respectively. Compared with the PG group, the metabolite of HC group with the most significant difference is D-glucosamine 6-phosphate ( P= 0.006). The metabolism gene function analysis showed that, the enrichment of carbohydrate metabolism related genes was highest in HC group, followed with HH group, and it was lowest in PG group. In addition, compared with the HH group, the abundance of functional genes related to glucose metabolism, such as ABC transporter and phosphotransferase system, were significantly decreased in PG group ( P< 0.05), but significantly increased in HC group ( P< 0.05). Conclusions: There is a significant correlation between the alternation of carbohydrate metabolism of salivary microbiota with the occurrence of caries and periodontitis. In the future, Prevotella pallens and 3-hydroxy-1, 5-diphenylpentan-1-one may be the potential biomarkers of caries; while Porphyromonas gingivalis and N1 acetylspermine work in the predictions of periodontitis.

Objective: To clarify the phenotypes of the newborns with SLC26A4 single-allele mutation in deafness genetic screening and second variant; to analyze the SLC26A4 genotype and hearing phenotype. Methods: 850 newborns born in Beijing from April 2015 to December 2019 were included and there were 468 males and 382 females. They received genetic deafness screening for 9 or 15 variants, with the result of SLC26A4 single-allele mutation. Firstly, three step deafness gene sequencing was adopted in this work, i.e., the first step was " SLC26A4 gene whole exons and splice sites" sequencing; the second step was " SLC26A4 gene promoter, FOXI1 gene and KCNJ10 gene whole exons" sequencing; and the third step was detection for " SLC26A4 gene copy number variation". Secondly, we collected the results of newborn hearing screening for all patients with the second mutation found in the three step test, and conducted audiological examinations, such as acoustic immittance, auditory brainstem response and auditory steady state response. Thirdly, for novel/VUS mutations, we searched the international deafness gene database or software, such as DVD, ClinVar and Mutation Taster, to predict the pathogenicity of mutations according to the ACMG guideline. Lastly, we analyzed the relationship between genotype and phenotype of newborns with SLC26A4 single allele mutation. Results: Among 850 cases, the median age of diagnosis was 4 months. In the first step, 850 cases were sequenced. A total of 32 cases (3.76%, 32/850) of a second variants were detected, including 18 cases (2.12%, 18/850) with identified pathogenic variants; 832 cases were sequenced and 8 cases of KCNJ10 gene missense variants were detected among the second step. No missense mutations in the FOXI1 gene and abnormal SLC26A4 gene promoter were detected; the third step sequencing results were all negative. Genotypes and hearing phenotypes included 18 cases combined with the second clear pathogenic variant, 16 cases (16/18) referred newborn hearing screening and 2 cases (2/18) passed in both ears; degree of hearing loss consisted of 18 profound ears (18/36), 13 severe ears (13/36) and 5 moderate ears (5/36); audiogram patterns comprised 17 high frequency drop ears (17/36), 14 flat ears (14/36), 3 undistinguished ears (3/36), and 2 U shaped ears (2/36); 11 cases underwent imaging examination, all of which were bilateral enlarged vestibular aqueduct. As for 22 cases of other genotypes, all passed neonatal hearing screening and the hearing diagnosis was normal, including 9 cases with VUS or possibly novel benign variants, 8 cases with KCNJ10 double gene heterozygous variants, and 5 cases with double heterozygous variants. Conclusions: The probability of individuals with SLC26A4 single-allele variant who merge with a second pathogenic variant is 2.12%, all of which are SNV, which can provide scientific basis for the genetic diagnosis and genetic counseling of SLC26A4 variants. Those who have merged with second pathogenic variant are all diagnosed with sensorineural hearing loss. Patients with KCNJ10 gene mutations do not manifest hearing loss during the infancy, suggesting the need for further follow-up.