Objective·To explore EDAR(ectodysplasin A receptor)gene variants that lead to congenital tooth agenesis,and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with congenital tooth agenesis admitted to the Department of 2nd Dental Center,Shanghai Ninth People's Hospital,Shanghai Jiao Tong University School of Medicine and their family members were included,and genomic DNA from their peripheral blood was extracted for whole exome sequencing(WES).After preliminary screening,PolyPhen-2,Mutation Taster,and Provean were used to predict the harmfulness of potential variants.The screened variants in patients and their families were verified by Sanger sequencing.Conservation analysis of variants was performed,and Swiss-Model was used to analyze the changes in the three-dimensional structure of EDAR.The teeth and syndromic phenotype of the patients and their family members were investigated.Results·Among the included congenital tooth agenesis patients,five patients with EDAR mutations were found,one with EDAR frameshift mutation c.368_369insC(p.L123fs)and the other four with EDAR missense mutations.Two of these four patients were diagnosed as non-syndromic tooth agenesis(NSTA),resulted from c.77C＞A(p.A26E)homozygous mutation and c.380C＞T(p.P127L)heterozygous mutation,respectively.The other two patients with two variants were diagnosed as hypohidrotic ectodermal dysplasia(HED).One compound heterozygous missense mutation patient carried EDAR c.77C＞T(p.A26V)from her father andEDAR c.1281G＞C(p.L427F)from her mother;the other patient with both EDAR and EDA mutations carried EDAR c.1138A＞C(p.S380R)heterozygous mutation and EDA c.1013C＞T(p.T338M)hemizygous mutation.Both variants were from his mother and were reported to be related with NSTA.Two of these missense mutations,EDAR c.1281G＞C(p.L427F)and EDAR c.77C＞A(p.A26E),had not been reported before.The missense mutations affected the protein's spatial conformation by altering the polarity,charge,or volume of the amino acid residues.The frameshift mutation caused a non-triplet base addition,which probably led to protein truncation or degradation.Conclusion·Two new EDAR missense mutations are discovered.An NSTA patients with EDAR homozygous mutations and an HED patient with both EDA and EDAR mutations are reported.It expands the understanding of pathogenic mechanisms of EDAR mutations causing HED and NSTA.

Objective:To investigate the relationship between the lowest hemoglobin value during hospitalization and the prognosis in patients with extensive burns, in order to explore the hemoglobin warning threshold for blood transfusion in patients with extensive burns.Methods:The research was a retrospective observational study. From October 2012 to October 2022, 288 patients with extensive burns who met the inclusion criteria were admitted to the First Affiliated Hospital of Army Medical University (the Third Military Medical University), including 243 males and 45 females, aged 18 to 65 years. These patients were assigned to the death group ( n=54) and the survival group ( n=234) based on their final prognosis. The clinical data including gender, age, body mass index, total burn area, full-thickness burn area, time of first operation after injury, preoperative prothrombin time (PT) and activated partial thromboplastin time (APTT) and hemoglobin level of the first surgery, complication of inhalation injury, number of surgeries, total surgical area, total surgical time, total length of hospital stay, and highest procalcitonin value, lowest platelet count and hemoglobin values, and occurrence of sepsis during hospitalization were compared between the two groups of patients. According to the lowest hemoglobin value during hospitalization, the patients were assigned to <65 g/L group, ≥65 g/L and <75 g/L group, ≥75 g/L and <85 g/L group, and ≥85 g/L group. The total length of hospital stay, mortality and incidence of sepsis during hospitalization, and mortality within 90 days after injury were compared among the four groups of patients. The relationship between the lowest hemoglobin value during hospitalization and the mortality risk of patients with extensive burns was analyzed using a restricted cubic spline model before and after adjusting covariates. A logistic regression model was adopted to analyze the relationship between the lowest hemoglobin value during hospitalization and the mortality risk of patients with extensive burns after adjusting covariates, with the lowest hemoglobin value during hospitalization as a continuous variable and a categorical variable, separately. Results:Compared with those in survival group, the total burn area, full-thickness burn area, and total surgical area of patients in death group were significantly increased, the preoperative APTT of the first surgery was significantly prolonged, the number of surgeries was significantly reduced, the total length of hospital stay was significantly shortened, the highest procalcitonin value during hospitalization was significantly increased, the lowest platelet count and hemoglobin values during hospitalization were significantly decreased, and the incidence proportion of sepsis during hospitalization was significantly increased (with Z values of -6.72, -5.40, -2.15, -2.99, -2.21, -7.84, -6.23, -7.03, and -3.43, respectively, χ2=161.95, P values all <0.05). There were no statistically significant differences in the other clinical data of patients between the two groups ( P>0.05). There were statistically significant differences in mortality and incidence of sepsis during hospitalization, and mortality within 90 days after injury of patients among the four groups divided according to the lowest hemoglobin value during hospitalization (with χ2 values of 12.12, 15.93, and 10.62, respectively, P<0.05). There was no statistically significant difference in the total length of hospital stay of patients among the four groups ( P>0.05). The restricted cubic spline model analysis revealed an approximately linear relationship between the lowest hemoglobin value during hospitalization and the mortality risk of patients with extensive burns before and after adjusting covariates (with χ2 values of 0.81 and 0.75, respectively, P>0.05). After adjusting covariates, the logistic regression model analysis showed that the mortality risk of patients with extensive burns increased with decreasing hemoglobin when the lowest hemoglobin value during hospitalization was analyzed as a continuous variable (with odds ratio of 0.96, with 95% confidence interval of 0.92 to 0.99, P<0.05). When using the median value of 75.5 g/L as the cut-off value for categorizing the lowest hemoglobin value during hospitalization, there was no statistically significant difference in the mortality risk between patients with hemoglobin <75.5 g/L and those with hemoglobin ≥75.5 g/L ( P>0.05). When the patients were divided into four groups based on the lowest hemoglobin value during hospitalization as above, using ≥85 g/L group as a reference, only patients in <65 g/L group had a significantly increased mortality risk (with odds ratio of 5.37, with 95% confidence interval of 1.57 to 18.29, P<0.05). Conclusions:There is an approximately linear correlation between the lowest hemoglobin value during hospitalization and the mortality risk of patients with extensive burns. When the hemoglobin level drops to 65 g/L or lower, the mortality risk of patients increases significantly, suggesting that a hemoglobin level of 65 g/L could serve as a warning threshold for blood transfusion in patients with extensive burns.

Objective:To evaluate the effect of sleep deprivation on the expression of sirtuin 6 (SIRT6) in the cerebellum of immature mice.Methods:Fifty SPF healthy male C57BL/6 mice, aged 4 weeks, weighing 14-16 g, were divided into 2 groups ( n=25 each) using a random number table method: control group (Con group) and sleep deprivation group (SD group). The chronic sleep deprivation model was prepared by using the multi-platform water environment method, with 20 h of sleep deprivation per day for 10 consecutive days. After sleep deprivation, a balance beam experiment was performed to test the balance and coordination ability of mice. The mice were sacrificed after anesthesia and cerebellar lobular IV-VI (4-6 cb) tissues were taken for microscopic examination of the ultrastructure (with a transmission electron microscope) and for determination of the dendritic spine density of cerebellar 4-6cb Purkinje neurons (by Golgi staining), co-expression of SIRT6 and Calbindin D-28k (CbD-28k) and expression of glucose transporter Glut3 of cerebellar 4-6cb (by immunofluorescence staining). Results:Compared with group Con, the duration of passage through the balance beam was significantly prolonged, and the number of posterior foot slips was increased, the synaptic gap of cerebellar 4-6cb neurons was increased, the thickness of postsynaptic density was increased, the density of dendritic spines of Purkinje cells and the number of positive cells co-expressing SIRT6 and CbD-28k were decreased, and the expression of Glut3 was down-regulated in group SD ( P<0.05). Conclusions:The mechanism by which sleep deprivation decreases the abilities of balance and coordination is related to down-regulating SIRT6 expression in cerebellar Purkinje cells and decreasing neuronal glucose metabolism, thus damaging the synaptic plasticity of cerebellum in immature mice.

Objective To observe the value of transesophageal echocardiography(TEE)for guiding left atrial appendage closure(LAAC)with LAmbre occluder.Methods Data of 40 non-valvular atrial fibrillation(NVAF)patients who underwent LA AC with LAmbre occluder were retrospectively analyzed.CT angiography(CTA)before treatment,TEE and digital subtraction angiography(DSA)findings during LAAC were comparatively observed,and the correlations of the anchor area diameter and left atrial appendage opening diameter measured with the above three as well as occluder size were analyzed,and TEE and DSA for evaluating peri-device leak(PDL)were compared.Results LAAC were successfully performed with LAmbre occlude in all 40 cases.The diameter of the fixed umbrella was positively correlated with anchor area diameter measured with CTA,TEE and DSA(r=0.79,0.82,0.91,all P＜0.01),of occlusion umbrella was positively correlated with left atrial appendage opening diameter measured with CTA,TEE and DSA(r=0.56,0.89,0.86,all P＜0.01).Immediately after the release of occluder in LAAC,PDL occurred in 16 cases and were detected with both TEE and DSA,while in the rest 24 cases no PDL was found with neither TEE nor DSA.Conclusion TEE had comparable value to DSA for guiding LAAC using LAmbre occluder.

Objective:To construct a classification management model of medical equipment in public hospitals based on association rules algorithm,and to analyze its application effect in hospital equipment management.Methods:Equipment classification management was performed based on Apriori algorithm(association rule analysis)and K-means algorithm(equipment abnormal information mining)in the association rules algorithm,the classification management model of medical equipment in public hospitals was constructed to mine the abnormal characteristics of equipment status.A total of 244 medical devices in clinical use in Beijing Huilongguan Hospital from 2022 to 2023 were selected.According to the application of the classification management model of medical equipment in public hospitals based on the association rule algorithm,the equipment use period from January to December 2022 was set before the application of the association rule algorithm model,and the equipment use period from January to December 2023 was set to the time after the application of the association rule algorithm model.The scores of equipment classification management,the failure rate of different types of equipment and equipment efficiency score before and after the application of association rule algorithm model were compared.Results:After the application of association rule algorithm model,the average scores of warehousing management,use management,maintenance management and scrap management were(89.65±4.65)points,(90.25±4.36)points,(87.69±3.12)points and(90.36±3.39)points,respectively,which were higher than before the application,the difference was statistically significant(t=17.866,14.671,18.128,19.479,P<0.05).After the application of association rule algorithm model,the number of medical image diagnostic and auxiliary equipment,health monitoring equipment,rehabilitation equipment and intervention and treatment equipment that failed was 2,3,2,and 3,and the failure rates were 3.33%,4.69%,2.86%and 6.00%,respectively,which were lower than those before the application,the difference was statistically significant(x2=5.925,6.117,7.937,5.316,P<0.05).After the application of association rule algorithm model,the average scores of overall utilization efficiency,quality stability efficiency and accurate diagnosis and treatment efficiency of the equipment were(96.39±3.69)points,(94.23±3.06)points and(95.47±4.36)points,respectively,which were higher than those before the application,and the difference was statistically significant(t=16.762,17.919,11.769,P<0.05).Conclusion:The application of the classification management model of medical equipment in public hospitals based on association rules algorithm can realize the classification management of medical equipment in hospitals,improve the operating efficiency and management level of equipment,and reduce the equipment failure rate.

Objective:To analyze the epidemiological characteristics of respiratory virus infections in Sichuan from 2017 to 2023, and investigate the changes in detection rates of various viruses in different periods and age groups.Methods:The study included 41 516 patients with acute respiratory infections. Clinical laboratory results of these patients were retrospectively collected to calculate the detection rates of various viruses. The epidemiological characteristics of respiratory virus infections before, during, and after the COVID-19 pandemic, the prevalence of mixed infections, and the detection rates in different seasons and age groups were analyzed.Results:The overall detection rate of respiratory viruses was 23.35% (9 696/41 516), with influenza A virus (8.47%, 3 515/41 516), rhinovirus (7.13%, 2 961/41 516), and influenza B virus (2.04%, 846/41 516) being the most prevalent. The highest detection rate was observed in children aged 0-14 years (48.62%, 1 429/2 939), while the detection rates in young, middle-aged, and elderly individuals were similar [21.00% (1 482/7 057), 22.06% (3 828/17 350), 20.33% (2 685/13 205)]. The detection rate of influenza A virus dropped to 1.35% (253/18 717) during the COVID-19 pandemic, and rebounded to 13.05% (1 560/11 953) after the pandemic. A similar pattern was observed in other viruses such as human metapneumovirus, influenza B virus, coronavirus, and respiratory syncytial virus, with significant reductions during the COVID-19 pandemic and subsequent increases that even exceeded pre-pandemic levels. The detection rates of adenovirus, bocavirus, and rhinovirus gradually decreased over time, while the prevalence of parainfluenza virus remained stable, indicating a less significant impact of COVID-19 on these viruses. Higher detection rates were observed in autumn (28.90%, 2 324/8 041) and winter (26.52%, 4 093/15 433) as compared to that in spring (17.61%, 1 848/10 494) and summer (18.96%, 1 431/7 548), suggesting significant seasonal impacts on virus detection rates ( P<0.001). This study identified 8 666 cases of single-virus infections, 948 double infections, 77 triple infections, and five quadruple infections. Co-infection of bocavirus and rhinovirus was the most common type of double infections (17.41%, 165/948), and 59.60% (565/948) of double infections involved rhinovirus. Conclusions:The overall detection rate of respiratory viruses is higher in autumn and winter than in spring and summer. The prevalence of some respiratory viruses such as influenza viruses decreases during the COVID-19 pandemic. People of different ages can develop multiple infections with rhinovirus being the most common in double infections.

Objective:To study the short-term (≤3 months) efficacy and safety of esophageal triamcinolone acetonide filling combined with short-course oral methylprednisolone for the prevention of esophageal stenosis after large-area endoscopic submucosal dissection (ESD) (≥3/4 circumference).Methods:A total of 14 patients with 15 early esophageal lesions who received ESD after evaluation from June 2021 to September 2022 in Jiangsu Province Hospital of Chinese Medicine were enrolled. All received regular esophageal triamcinolone acetonide filling combined with oral methylprednisolone for 7 weeks until the lesions completely recovered by regenerated squamous epithelium (>95%). Patients with esophageal stricture were treated with additional endoscopic dilatation. The stenosis rate, the interval between the first endoscopic dilation and the completion of ESD, the number of esophageal triamcinolone acetonide filling, the healing time after ESD, and the speed and method of squamous epithelium regeneration were observed. The secondary observations were adverse events such as bleeding and perforation after ESD and adverse events related to steroid hormone.Results:No adverse events occurred after ESD in 14 patients. Only 1 patient developed esophageal stenosis, the incidence of stenosis was 7.1% (1/14). The interval between the first dilation and ESD was 39 days. Thirteen patients achieved squamous epithelium regeneration without stenosis or adverse events related to steroid hormone. The median number of esophageal triamcinolone acetonide filling was 6.5 times (4.0-14.0 times), the median healing time was 40 days (32-94 days), and the median healing speed was 0.61 cm2/d (0.30-1.55 cm2/d).Conclusion:Esophageal triamcinolone acetonide filling combined with short-course oral methylprednisolone for the prevention of esophageal stenosis after large-area ESD is effective and safe in the short-term follow-up.

Female ; Humans ; Pregnancy ; Septate Uterus ; Uterus/surgery* ; Hysteroscopy/methods* ; Estrogens ; Tissue Adhesions/surgery* ; Randomized Controlled Trials as Topic ; Multicenter Studies as Topic