OBJECTIVE: To analyze ultrasonographic finding in fetuses with Wolf-Hirschhorn syndrome (WHS) and refine the critical region on chromosome 4p16.3 for WHS-associated fetal growth retardation (FGR). METHODS: In total 2262 fetuses with abnormal ultrasonographic findings who underwent prenatal karyotyping and chromosomal microarray analysis were reviewed. WHS-associated 4p deletions detected in these fetuses were compared, and prenatal ultrasound findings in such fetuses were summarized. Meanwhile, WHS cases with prenatal ultrasound findings and isolated 4p deletions in previous studies were included for further analysis. An analysis of smallest region of overlap (SRO) among discrepant 4p deletions in these cases above was performed to define a critical region for FGR. RESULTS: 4p deletions were detected in 10 of the 2262 fetuses and 5.0% of the 202 fetuses with FGR. Combined with 80 WHS cases from previous studies, the most common prenatal ultrasound finding was FGR, which yielded a frequency of 76.7%. In addition, a SRO spanning approximately 419 kb (genomic position: 1.32-1.74 Mb) on chromosome 4p16.3 was discovered by comparing the unusual 4p deletions among the 10 fetuses. The region contained seven protein-coding genes, including TACC3, SLBP, TMEM129, FAM53A, MAEA, UVSSA and CRIPAK. CONCLUSION For fetuses with WHS, the most common prenatal ultrasound phenotype was FGR. A region between 1.32 Mb to 1.74 Mb from the telomere on chromosome 4p16.3 is critical for WHS-associated FGR, for which TACC3 and SLBP are the candidate genes.

Objective To investigate the clinical efficacy of intratympanic corticosteroids(ITS)and hyperbaric oxygen therapy(HBOT)in patients with idiopathic sudden sensorineural hearing loss(ISSNHL)who had failed systemic corticosteroid(SS)treatment.Methods ISSNHL patients admitted to the Department of Otolaryngology,First People's Hospital of Linping District of Hangzhou city from January 2020 to January 2023 were retrospectively collected.According to the treatment plan,patients with ISSNHL were divided into SS group,HBOT group,and ITS group.The changes in hearing level[purity hearing threshold mean(PTA)]and hearing gain of ISSNHL patients before treatment(T0),day 5(T1)and after 3 months of treatment(T2)were observed and compared,and the total effective rate of treatment in different groups was compared.Univariate analysis was used to explore the influencing factors of the efficacy of patients with different treatment modalities of ISSNHL.Results A total of 156 ISSNHL patients were included,including 70 in the SS group,33 in the HBOT group and 53 in the ITS group.At T0,there was no significant difference in PTA among the three groups of patients(P>0.05).At T2,the level of PTA in the three groups of ISSNHL patients was significantly lower than that before treatment(P<0.05).The levels of PTA in the HBOT group and ITS group were significantly lower than those in the SS group(P<0.05).The level of PTA in the HBOT group was significantly lower than that in the ITS group(P<0.05).The hearing gain of the HBOT group and the ITS group was significantly higher than that of the SS group(P<0.05),and the hearing gain of the HBOT group was significantly higher than that of the ITS group(P<0.05).The total effective rate of HBOT group was significantly higher than that of ITS group(P<0.05),and the total effective rate of ITS group was significantly higher than that of SS group(P<0.05).In addition,vertigo was an influencing factor for poor hearing recovery in ISSNHL patients regardless of treatment regimen(P<0.05).Conclusion Both ITS and HBOT can improve the treatment efficiency of ISSNHL patients who have failed SS treatment and promote hearing recovery in ISSNHL.Compared with IST,HBOT has more significant efficacy,and it is recommended that clinical treatment be prioritized.Vertigo is an influencing factor for poor hearing recovery in patients with ISSNHL who have failed SS treatment,and should be focused on in clinical practice.

Objective:To investigate the effects of repeated high acceleration(+Gz)on implant osseointegration in SD rats.Methods:18 SD rats were divided into+Gz and control groups randomly(n=9),and 1 implant was placed in each femur of the rat's lower limb.24 hours postoperatively,the experimental rats were exposed to+Gz of 4 to 9 G with 1 G/s environment 3 times a week,while the con-trol rats were fed normally.3 rats from each of the 2 groups were sacrificed at 2,4 and 8 weeks after implantation.Micro-CT,sequential fluorescence double labeling,and histological examination were perfomed for the analysis of implant osseointegration.Results:The bone volume fraction(BV/TV),trabecular number(Tb.N),mineral apposition rate(MAR),implant-bone contact rate(BIC)and bone area in implant thread(BA)of the+Gz group were significantly lower than those of the control group at 2 weeks(P＜0.05),and so as to MAR,BA at 4 weeks(P＜0.05),while there was no significant difference of the parameters at 8 weeks after implantation.Conclusion:In SD rats early exposure to+Gz environment postoperatively may have a negative effect on initial osseointegration by slowing bone forma-tion.However,it will not lead to poorer bone mass when sustained over a long period.

Objective:Factors influencing the prognosis of hemophagocytic lymphohistiocytosis (HLH) in adults were analyzed based on multicentric data.Methods:Clinical data of 124 adult patients with HLH diagnosed in eight medical centers in the Huaihai Lymphoma Working Group from March 2014 to July 2020 were collected. The optimal truncation value of continuous variables was obtained based on the Maxstat algorithm, X-Tile software, and restricted cubic spline. Cox proportional risk regression model was used to construct the adult HLH risk prediction model, and the visualization of the model was realized through the histogram. The bootstrap resampling method was used to verify the model, C-index and calibration curve was used to verify the histogram, and the prediction accuracy was checked. Kaplan-Meier analysis was used to calculate the survival rate and draw the survival curve. Furthermore, the differences between groups were tested by log-rank.Results:The median age of the 124 patients was 55 (18-84) years, including 61 (49.19%) males. The most common etiology was infection. Serum ferritin increased in 110 cases (88.71%) , hepatosplenomegaly in 57 cases (45.97%) . Of the 124 patients, 77 (62.10%) died, and the median survival time of the patients was 7.07 months. Univariate results showed that the prognosis of adult HLH was influenced by sex, age, fibrinogen, serum creatinine, alanine aminotransferase, and albumin ( P<0.05) . The results of multivariate analysis showed that gender, platelet, albumin, alanine aminotransferase, and treatment regimens were independent influencing factors for prognosis. Based on the above five risk factors, the prediction model of the histogram was established, and the C-index of the model was 0.739. Finally, the calibration chart showed good consistency between the observed and predicted values of HLH. Conclusion:The prognosis of the adult hemophagocytic syndrome is influenced by many factors. Gender, platelet, albumin, alanine aminotransferase, and treatment regimens are independent risk factors. Therefore, the established histogram provides a visual tool for clinicians to evaluate the prognosis of adult HLH.