Objective:To summarize the key prenatal ultrasound diagnosis features of Apert syndrome, analyze the causes of missed diagnosis and misdiagnosis, and propose corresponding preventive strategies.Methods:A retrospective analysis was made on the medical records and prenatal ultrasound images of 15 fetuses (including 14 cases referred from other hospitals) who underwent prenatal ultrasound examination in Guangdong Women and Children Hospital from August 2014 to May 2022 and were eventually clinically confirmed as Apert syndrome by induction or after birth. By conducting a comparative analysis, particularly focusing on the initial and final diagnoses of referral cases, the key ultrasound diagnostic points of Apert syndrome and the causes for missed and misdiagnosis were summarized.Results:①Diagnostic accuracy: Among the 15 fetuses, 11 cases (73.3%) were correctly diagnosed by prenatal ultrasound and 4 cases (26.7%) were missed diagnosis and misdiagnosis. For the 14 referral cases, only 2 cases (14.3%) were correctly identified in the initial diagnosis at the referring hospital (14.3%), and 12 cases (85.7%) were missed missed diagnosis and misdiagnosis. ②Detection rate of ultrasound signs: In the 15 fetuses with Apert syndrome, the detection rate of " cloverleaf" skull was 13.3% (2/15), premature coronal suture was 66.7% (10/15), the " brain shadowing sign" and flat occiput were both 93.3% (14/15), prominent forehead, hypertelorism and bilateral syndactyly of hands were all 100% (15/15), and bilateral syndactyly of feet was 73.3% (11/15). ③Analysis of missed diagnosis and misdiagnosis: Among the 4 cases of missed diagnosis and misdiagnosis in our hospital, premature closure of coronal suture, " brain shadowing sign", flat occiput and hypertelorism were all not recognized. Among these, 3 cases also missed the prominent forehead, bilateral syndactyly of hands and feet. Additionally, 1 case of bilateral syndactyly of hands was misdiagnosed as partial absence of metacarpals and phalangess.Conclusions:In the prenatal ultrasound diagnosis of fetal Apert syndrome, the symmetric syndactyly of both hands serves as an extremely important diagnostic clue. The " cloverleaf" skull is not common. The premature closure of coronal suture as a direct diagnostic sign with a high detection rate, highlighting its significance in the diagnostic of Apert syndrome. Furthermore, the high detection rates of characteristic ultrasound features such as prominent forehead, flat occiput, " brain shadowing sign" and hypertelorism could help to improve the accuracy of prenatal ultrasound diagnosis for Apert syndrome and effectively reduce missed and misdiagnosis.

Objective:To explore the application value of 3D-slicer software in measuring renal volume parameters of renal transplant donors in evaluating renal function.Methods:The data of 31 renal donors admitted to Beijing Friendship Hospital, Capital Medical University from October 2019 to September 2022 were retrospectively analyzed. Glomerular filtration rate (GFR) were measured by SPECT radioactive dynamic imaging, and renal cortex volume (RCV), renal parenchymal volume (RPV) were measured after 3D reconstruction of urinary enhanced CT based on 3D slicer software. The estimated GFR(eGFR) predicted by creatinine-based GFR estimation equations (C-G equation, modified and simplified MDRD equation) and volume-based GFR estimation equations (Herts equation, Choi equation). Different eGFR were calculated, and the correlation between kidney volume parameters, eGFR equations and measured GFR was analyzed. The deviation, accuracy and consistency between different equations eGFR and measured GFR were analyzed and compared. The measurement data of normal distribution were expressed as mean±standard deviation ( ± s), and t-test was used for inter-group comparison. Measurement data with non-normal distribution were represented by M( Q1, Q3), and non-parametric test was used for comparison between groups. Results:The correlation between different eGFR and measured GFR is poor, and the deviation is small, and with good accuracy and consistency. Except for the weak correlation between the Choi equation eGFR and measured GFR ( r=0.382, P=0.034), there was no significant correlation between eGFR by other equations and measured GFR ( P>0.05). Among them, the deviation between the Herts equation-eGFR and measured GFR was the smallest (0.30 mL·min -1·1.73 m -2), with a 10% coincidence rate (61.29%) and a 30% coincidence rate (96.77%), and the best consistency with measured GFR, with a consistency limit of -28.75 to 29.34 mL·min -1·1.73 m -2. Conclusion:Compared with the laboratory index formula method, the Herts equation has better prediction efficiency in estimating GFR, The measurement of renal volume parameters by 3D slicer software has a certain clinical value in evaluating the renal function of renal donors, which is worthy of further application.

Objective:To investigate the reference range of the length and thickness of the fetal vomer-palate diameters at 11-13 + 6 weeks, and their role in the diagnosis of cleft lip and palate(CLP). Methods:From May 2020 to August 2021, 1 559 pregnant women who underwent ultrasound examination at 11-13 + 6 weeks in Guangdong Women and Children Hospital were selected, and the fetal vomer-palate in the median sagittal plane of the face was observed. The length and thickness diameters of the fetal were measured separately to establish the reference value range of normal fetal.The reference range was compared with the vomer-palate data of fetuses with confirmed CLP. Results:The 1 518 normal fetuses were divided into 11-13 + 6 weeks, 12-12 + 6 weeks and 13-13 + 6 weeks. The reference values of the long diameter of fetal vomer-palatine were 4.3-5.9 mm, 5.0-6.8 mm, 5.4-7.7 mm, and the reference values of the thick diameter were 2.0-2.9 mm, 2.2-3.4 mm, and 2.5-3.8 mm, respectively. The length and thickness of the fetal vomer-palatine were significantly positively correlated with the Crown-rump length ( rs=0.733, 0.634; all P<0.001). In the 1 559 fetals, 25 cases were diagnosed and confirmed with CLP, and the vomer-palate thickness diameters were smaller than the reference values in all cases, meanwhile, the vomer-palate length diameters of 22(88.0)% cases were smaller than the reference values. Conclusions:The reference range of fetal vomer-palate length and thickness at 11-13 + 6 weeks of gestation is valuable for the screening of fetal CLP.

Objective:To investigate the epidemiological and clinical characteristics of human parainfluenza viruses (HPIVs) infection among hospitalized children with community-acquired pneumonia (CAP) in China, and provide basic data for diagnosis, treatment and prevention of HPIVs infection.Methods:From November 2014 to February 2020, 5 448 hospitalized children with CAP were enrolled in 14 hospitals in 11 provinces and municipalities directly under the Central Government in southern China and northern China. Nasopharyngeal aspirates or throat swabs were collected, and the nucleic acids of 18 types respiratory viruses including HPIV1-4 were screened by suspension array technology. Demographic data and clinical information were collected for statistical analysis.Results:The total detection rate of HPIVs in 5 448 children with CAP was 8.83% (481/5 448), and the detection rate in males was higher than that in females (62.79% vs. 37.21%; χ2=0.000, P=0.992). The detection rate of HPIVs in 1~< 3 years age group was higher than that in other age groups, and the difference was statistically significant ( χ2=61.893, P<0.001). The detection rate of HPIVs in the northern region was higher than that in the southern region (9.02% vs 8.65%), but the difference was not statistically significant ( χ2=0.239, P=0.625). The prevalence of HPIV1-4 in northern and southern China was not completely same. HPIV1 was mainly prevalent in autumn in both northern and southern regions. HPIV2 was prevalent in summer in northern China, and the detection rate was low in southern China. HPIV3 reached its peak in both spring and summer in both northern and southern China, but its duration was longer in southern China than in northern China. HPIV4 is mainly popular in autumn in both southern China and northern China. Among 481 children infected with HPIVs, 58.42% (281/481) were infected with HPIV alone, and the main clinical manifestations were cough (90.75%) and fever (68.68%). Out of the HPIV-positive cases, 42.62% (205/481) were co-infected with another type of HPIV or a different virus, while 11.43% (55/481) had co-infections with two or more different viruses. HPIV3 was the most common type of co-infection with other viruses. HPIV3 infection accounted for the largest proportion (76.80%) in 47 HPIVs-positive children with severe pneumonia. Conclusions:HPIVs is one of the most important pathogens causing CAP in children in China, and children under 3 years of age are the main populations of HPIVs infection. The prevalence characteristics of all types of HPIVs in children in the north and south are not completely same. HPIV3 is the dominant type of HPIV infections and causes more severe diseases.

Objective:To investigate the application value of three-dimensional image reconstruction technology based on 3D-slicer software in urology.Methods:The data of 36 patients with urinary tract diseases admitted to Beijing Friendship Hospital, Capital Medical University from May 2019 to December 2021 were retrospectively analyzed, including 20 males and 16 females; the median age was 53.50(41.75, 66.25) years. There were 10 relative kidney transplant donors, 12 cases with renal tumors, 6 cases with hydronephrosis and 8 patients with urinary calculi. The CT urography data of 36 cases were reconstructed into three-dimensional image models based on 3D-slicer software, and the morphology of the target tissue was measured.Results:In the urinary system model of 10 relative kidney transplant donors constructed in this study, the type of donor renal artery was single artery in 7 cases and accessory renal artery in 3 cases; In the three-dimensional model of 12 tumor kidneys, 4 tumors were located at the upper part of the kidney (2 near ventral and 2 near dorsal), 5 tumors were located at the middle part of the kidney (2 near ventral and 3 near dorsal), and 3 tumors were located at the lower part of the kidney near ventral. The average maximum diameter of the tumors was (27.3 ± 9.63) mm, and the tumor volume was (15.89 ± 5.93) cm 2. The study also successfully constructed a three-dimensional image model of the urinary system in 6 patients with hydronephrosis and 8 patients with urinary calculi (without hydronephrosis). Three-dimensional model image reconstructed by 3D-slicer software clearly showed the spatial structure of renal parenchyma, blood vessels, renal pelvis, calyces and ureter. The diameter, position and direction of ureters and blood vessels can be observed clearly based on the three-dimensional reconstruction model, and clinicians could also evaluate the location, shape, size and adjacent relationship with surrounding tissues of renal cysts, tumors, stones or other masses. Conclusion:3D-slicer software platform can assist clinicians to reconstruct the three-dimensional model of urinary system, which is worthy of further clinical application.

Genome-wide physical protein-protein interaction(PPI)mapping remains a major chal-lenge for current technologies.Here,we reported a high-efficiency BiFC-seq method,yeast-enhanced green fluorescent protein-based bimolecular fluorescence complementation(yEGFP-BiFC)coupled with next-generation DNA sequencing,for interactome mapping.We first applied yEGFP-BiFC method to systematically investigate an intraviral network of the Ebola virus.Two-thirds(9/14)of known interactions of EBOV were recaptured,and five novel interactions were discovered.Next,we used the BiFC-seq method to map the interactome of the tumor protein p53.We identified 97 interactors of p53,more than three-quarters of which were novel.Furthermore,in a more complex background,we screened potential interactors by pooling two BiFC libraries together and revealed a network of 229 interactions among 205 proteins.These results show that BiFC-seq is a highly sensitive,rapid,and economical method for genome-wide interactome map-ping.

Objective:To assess the efficacy and safety of 100 units of botulinum toxin A (BTX-A) intradetrusor injection in patients with overactive bladder.Methods:From April 2016 to December 2018, 17 tertiary hospitals were selected to participate in this prospective, multicenter, randomized, double-blind, placebo-controlled study. Two phases of study were conducted: the primary phase and the extended phase. This study enrolled patients aged 18 to 75 years who had been inadequately managed by anticholinergic therapy (insufficient efficacy or intolerable side effects) and had spontaneous voiding with overactive bladder. Exclusion criteria included patients with severe cardiac, renal and hepatic disorders, patients with previous botulinum toxin treatment for 6 months or allergic to BTX-A, patients with urinary tract infections, patients with urinary stones, urinary tract tumors, diabetes mellitus, and bleeding tendency. Eligible patients were randomly assigned to BTX-A group and placebo control group in a ratio of 2∶1. Two groups of patients received 20 intradetrusor injections of BTX-A 100U or placebo at the depth of the submucosal muscle layer respectively under cystoscope, including 5 injections at the base of the bladder, 3 injections to the bladder triangle, 5 injections each to the left and right walls and 2 injections to the top, sparing the bladder neck. As a placebo control group, patients received same volume of placebo containing no BTX-A and only adjuvant freeze-dried preparations for injection with the same method. A combination of gelatin, sucrose, and dextran served as adjuvants. Average micturition times per 24 hours, urinary incontinence (UI) episodes per day, average micturition volume per day, OAB symptom score(OABSS), and quality of life (QOL) score were recorded at baseline and the 2nd, 6th and 12th week after treatment. The primary efficacy endpoint was the change from baseline in the average micturition times per 24 hours at the 6th week after treatment. The secondary efficacy endpoints included the change from baseline in the average micturition times per 24 hours at 2nd and 12th week, as well as the change from baseline in the OABSS, QOL score, average frequency of urgency and UI episodes per day, urgency score, average micturition volume per day at 2nd, 6th and 12th week after treatment. Patients were followed for 12 weeks to assess adverse events (AEs). After assessed at week 12, if the micturition times has decreased less than 50% compared to baseline and the patient is willing to receive retreatment, then patients could enter the extended trial phase. In that phase, patients in both groups were injected with 100 units BTX-A from 12th week onwards and then followed up the same indicators for 12 weeks.Results:216 patients were enrolled in this trial (144 cases in the BTX-A group and 72 cases in the placebo control group). Baseline characteristics such as age (47.75±14.20 in the BTX-A group and 46.39±15.55 in the control group), sex (25 male/117 female in the BTX-A group and 10/61 in the control group), and disease duration (0.51 years in the BTX-A group and 0.60 years in the control group) were balanced between the two groups( P>0.05). A marked reduction from baseline in average micturition times per 24 hours was observed in all treatment groups at the 6th week and the reduction of the two groups was statistically different ( P<0.001 and P=0.008 respectively). Compared with the baseline, the average micturition times per 24 hours at the 6th week decreased from baseline by 2.40(0.70, 4.60)times for the BTX-A group and 0.70(-1.00, 3.30) times for the placebo control group respectively, and the difference between the two groups was considered to be statistically significant ( P=0.003). The change rates of average micturition times per 24 hours from baseline at the 6th week of the two groups were (16±22)% and (8±25)% respectively, and the difference between the two groups was statistically significant ( P=0.014). Compared with the baseline, the average micturition times per 24 hours at 2nd and 12th week decreased by 2.00(0.00, 4.00)and 3.30(0.60, 5.03)for the BTX-A group, 1.00(-1.00, 3.00)and 1.70(-1.45, 3.85)for the placebo control group respectively. The difference between two groups was considered to be statistically significant ( P=0.038 and P=0.012); the changes of average urgency times per day for the BTX-A group and the control group at the 2nd, 6th and 12th week were 2.00(0.00, 4.30)and 2.40(0.30, 5.00), 3.00(0.30, 5.70)and 0.70(-1.30, 2.70), 0.70(-1.30, 3.00) and 1.35(-1.15, 3.50), respectively. There were significant differences between two groups at the 2nd, 6th and 12th week, ( P=0.010, P=0.003 and P=0.025, respectively). The OABSS of the BTX-A group and the control group at the 6th week decreased by 1.00(0.00, 4.00)and 0.50(-1.00, 2.00) compared with the baseline, and the difference between the two groups was statistically significant ( P=0.003). 47 cases of BTX-A group and 34 cases of placebo control group entered the extended trial phase, and 40 and 28 cases completed the extended trial phase, respectively. The average micturition volume per 24 hours changed by -16.60(-41.60, -0.60)ml and -6.40(-22.40, 13.30)ml, (-35.67±54.41)ml and(-1.76±48.69)ml, (-36.14±41.51)ml and (-9.28±44.59)ml, (-35.85±43.35)ml and(-10.41±40.29)ml for two groups at the 12th, 14th, 18th and 24th week, and the difference between two groups was statistically significant at each follow-up time ( P=0.01, 0.006, 0.012 and 0.016, respectively). There was no significant difference in other parameters( P>0.05). However, adverse reactions after intradetrusor injection included increased residual urine volume (27 in the BTX-A group and 3 in the control group), dysuria (21 in the BTX-A group and 6 in the control group), urinary infection (19 in the BTX-A group and 6 in the control group), bladder neck obstruction (3 in the BTX-A group and 0 in the control group), hematuria (3 in the BTX-A group and 1 in the control group), elevated alanine aminotransferase (3 in the BTX-A group and 0 in the control group), etc. During the follow-up period, there was no significant difference in the other adverse events between two groups except the increase of residual urine volume( P<0.05). In the primary trial phase, among the 27 cases with increased residual urine volume in BTA group, only 1 case (3.70%) with PVR more than 300 ml; the PVR of 3 patients in the placebo group was less than 100 ml. The increase of residual urine volume caused by the injection could be improved or disappeared with the passage of time. Conclusions:Intradetrusor injection of Chinese BTX-A improved the average micturition times per 24 hours, the average daily urgent micturition times, OABSS, and average micturition volume per time, and reduced the adverse effects in patients with overactive bladder.Chinese BTX-A at dose of 100U demonstrated durable efficacy and safety in the management of overactive bladder.

Objective:To explore the value of high frequency ultrasound combined with serum alpha-fetoprotein (AFP) in the accurate qualitative diagnosis of pediatric testicular tumors.Methods:The ultrasound characteristics (physical properties, calcification, alder blood flow classification) and AFP levels of 47 testicular tumors confirmed by operation and pathology were analyzed retrospectively. The tumors were further divided into two ways: malignant tumor group and benign tumor group, yolk sac tumor group and non yolk sac tumor group. The characteristics of ultrasound and the accurate qualitative diagnosis efficiency of AFP in testicular tumors were analyzed by receiver operating characteristic curve (ROC).Results:18 cases of yolk sac tumor showed solid or almost solid mass, which may be accompanied by several small anechoic areas without calcification. The Alder blood flow grade were grade 3. 29 cases of nonyolk sac tumor showed cystic, solid or mixed mass, most of them have calcification and some of them showed honeycomb echo. Alder blood flow grade were 0-3 grade. ROC curve analysis showed that the area under the curve, sensitivity and specificity of the ultrasound characteristics and AFP in the diagnosis of pediatric testicular malignancies were: solid or almost solid mass (0.894, 83.3%, 95.5%), and no calcification (0.904, 94.4%, 86.4%), Alder blood flow level 3 (0.941, 88.9%, 95.5%), AFP by best cut-off value 18.8 ng/ml (0.972, 100%, 95.5%), ultrasound features combined with AFP (0.992, 100%, 90.9%). All the testicular malignancies, such as yolk sac tumor, immature teratoma, teratoma combined with yolk sac tumor, can be identified by ultrasound features combined with AFP. Further analysis showed that the sensitivity and specificity of the diagnosis of yolk sac tumor with combined solid or almost solid and no calcification were both 100.0%, which can accurately distinguish all cases of yolk sac tumor.Conclusions:Pediatric testicular yolk sac tumor has specific ultrasound performance, high-frequency ultrasound can make a relatively accurate diagnosis, combined with serum AFP can further make a relatively accurate qualitative diagnosis of other malignant tumors of the testis in children.

Objective: To analyze the characteristics of lung ultrasound (LUS) in congenital pulmonary airway malformation (CPAM), and to compare the difference of image characteristics between LUS and chest X-ray(CXR) and evaluate the value of neonate LUS in CPAM. Methods: From June 2017 to October 2018, the characteristics of LUS and CXR of 32 neonates who were diagnosed with CPAM by prenatal ultrasound and postnatal chest CT were analyzed retrospectively, and the difference of their direct signs and indirect signs were compared. Results: Among 32 CPAM cases, 10 cases (31.25%) showed a single large cystic lesions and 3 cases with consolidation, 4 cases (12.5%) characterized by multiple hypoechoic lesions and 3 cases with consolidation, 16 cases (50%) showed consolidation with or without intensiveaerated bronchus sign or dendritic air-filled bronchi, 2 cases (6.25%) only characterized by dense B-line. The non-characteristic sonographic findings including pleural line was not smooth and not clear; A-line decreased or disappeared, dense B-lines were observed. The ability of LUS in measuring the size of CPAM was limited.Among 32 CPAM cases, 10 cases (31.25%) showed large cystic hypoechoic lesions and 22 cases (68.75%) showed small cystic hypoechoic lesions by CT scan. In this group, there were 11 cases(34.4%) with normal CXR. There was no significant differences of the direct signs (including single large cystic lesions and multiple hypoechoic lesions) between LUS and CXR (P=0.80), however the indirect signs of LUS were more obvious than CXR, with significant difference(P=0.001). Conclusions The neonatal LUS findings of CPAM is multiple, it can be used as a preliminary qualitative screening method.The diagnosis value of indirect sign of LUS is superior to CXR.

Objective To discuss the diagnostic value of 3D-ultrasound for cord entanglement in monoam-niotic twins. Methods From November 2013 to March 2016,a total of 65 monoamniotic twinsunderwent routine obstetric ultrasonography to screen fetal abnormalities in our hospital. The cord was meticulously observedusing a systematic continuous sequence approach. Fetuses who showed cord entanglement by 2-D ultrasound or 3-D flow Doppler were all recruited. The gestational weeks,fetal malformation,ultrasonic image feature of cord entangle-ment,and clinicaloutcome were recorded and analyzed retrospectively. Results 4 monoamniotic twins showed cord entanglement. Three-dimensional color Doppler clearly delineated thefeatures of entanglement. At following-up of 8 fetuses,3 fetuses were found intrauterine fetal death and 3 fetuses with structural abnormalities except for 2 well infants.Conclusion Cord entanglement may threaten the safety of fetusesin monoamniotic pregnancies.In aid of 2-D ultrasound or 3-D flow Doppler in monoamniotic twins can help to find it in time ,monitor it carefully and provide evidence for obstetric treatment .