Meckel-Gruber syndrome is a rare,fatal disease.The rate of natal morbidity worldwide is from 1/140 000 to 1/13 250.With the development of ultrasound and molecular diagnosis technology,especially the emergence of the third generation of in vitro fertilization (IVF) and prenatal genetic diagnosis (PGD),it is possible for the genetic carriers to solve the fertility problems.In this review,the recent insight of Meckel-Gruber syndrome diagnostic criteria,possible pathogenesis and differential diagnosis of other diseases were discussed.Through the introduction of the disease,it is hoped to improve clinical understanding of the disease and remind the clinicians pay more attention to rare genetic disorders.It is helpful to improve the ability of the clinical diagnosis of the disease and other rare genetic disorders,and provide eugenic counseling and clinical guidance to the affected families.

OBJECTIVE:To establish the purity determination of bisacodyl by differential scanning calorimetry(DSC)and the valuation of uncertainty. METHODS:DSC was conducted to detect the purity of bisacodyl and determine the optimal testing condi-tions. According to related standards,indium enthalpy change values,measurement repeatability,weighing process,instrument tem-perature deviation and system software deviation were systematically analyzed. The results were verified by HPLC. RESULTS:When the fiducial probability P was 0.95,the standard value and uncertainty of content of bisacodyl was (99.88 ± 0.06)% mea-sured by DSC. Weighing process,instrument temperature deviation and system software deviation had great effects on the total un-certainty. The result of HPLC and DSC were the same. CONCLUSIONS:The established DSC can quickly and accurately determine the chemical purity of bisacodyl. The uncertainty evaluation is reliable. Regularly calibrated and verificated equipment and strict con-trol of the weighing process will help to improve the accuracy measured by DSC;and it provides a new analysis method for the de-termination of purity of bisacodyl.

Objective:To investigate the relationship between heart rate, blood pressure and autonomic nerve function in patients with obstructive sleep apnea hypopnea syndrome (OSAHS) after uvulopalatopharyngoplasty (UPPP).Methods:One hundred patients with OSAHS who underwent UPPP in Wuhan Central Hospital Tongji Medical College, Huazhong University of Science and Technology from July 2018 to July 2019 were selected. According to the disease grade of apnea hypopnea index (AHI), 38 cases were divided into mild group (AHI 5 to 15 times/h) and 62 cases were divided into severe group (AHI>16 times/h). The preoperative and postoperative polysomnography and 24 h dynamic electrocardiogram records was used to monitor the patient′s data, and the quality of sleep was compared before and after treatment in patients with sleep apnea, including: apnea and AHI, the longest apnea time (LAT), the lowest oxygen saturation (L SaO 2) and ratio of time with blood oxygen saturation lower than 90% to total sleep time (TSPO 2 90%); patient′s heart rate, including: maximum heart rate, minimum heart rate and average heart rate; heart rate variability (HRV) and related indexes of patients, including: all sinus RR interval (SDNN), RR interval mean standard deviation (SDANN), root mean square (RMSSD) of adjacent RR interval difference, the percentage of adjacent NN>50 ms in total sinus interval difference (PNN50%) and HRV triangle index; autonomic nerve function of patients, including: high frequency band (HF, 0.05 to 0.15 Hz), low frequency band (LF, 0.01 to 0.05 Hz) and LF/HF; patients′blood pressure, including: systolic and diastolic blood pressure. Results:Compared with those before treatment, AHI, LAT, TSPO 2 90%, SDNN, SDANN, RMSSD, PNN50% and HRV trigonometric index were decreased in mild group and severe group after treatment, L SaO 2 was increased, and there were statistical differences ( P<0.05). Compared with those of mild group, AHI, LAT, TSPO 2 90%, SDNN, SDANN, RMSSD, PNN50% and HRV trigonometric index were increased in severe group before treatment, LSaO 2 was decreased, and there were statistical differences ( P<0.05). In the mild group before treatment, mild group after treatment, severe group before treatment and severe group after treatment, the highest heart rates were (127.22 ± 21.87), (72.26 ± 6.15), (143.71 ± 22.09) and (75.03 ± 8.21) beats/min, the lowest heart rates were (50.18 ± 5.21), (61.27 ± 7.10), (42.18 ± 5.13) and (59.67 ± 6.77) beats/min, and the average heart rates were (71.95 ± 8.36), (62.37 ± 6.28), (85.72 ± 11.04) and (64.30 ± 5.89) times/min. After treatment, the maximum heart rate and average heart rate of mild group and severe group were lower than those before treatment, the lowest heart rate was higher than that before treatment, and there were statistical differences ( P<0.05). In the mild group before treatment, mild group after treatment, severe group before treatment and severe group after treatment, the LF were (1107.61 ± 151.69), (768.42 ± 135.18), (1 307.57 ± 182.30), (770.41 ± 160.25) ms 2, HF were (781.81 ± 91.46), (457.24 ± 72.13), (835.03 ± 152.75), (450.44 ± 94.10) ms 2, LF/HF were 1.76 ± 0.25, 1.35 ± 0.14, 1.98 ± 0.32, 1.38 ± 0.11. After treatment, LF, HF and LF/HF in mild group and severe group were lower than those before treatment ( P<0.05); before treatment, LF, HF and LF/HF rate in severe group were higher than those in mild group ( P<0.05). In the mild group before and after treatment, mild group before and after treatment, the systolic blood pressure were (125.01 ± 15.23), (103.22 ± 17.93), (146.13 ± 21.60), (111.25 ± 23.63) mmHg (1 mmHg = 0.133 kPa), and the diastolic blood pressure were (82.27 ± 11.49), (66.13 ± 10.27), (93.52 ± 16.06), (69.10 ± 14.39) mmHg. After treatment, systolic and diastolic blood pressure in mild group and severe group were lower than those before treatment, and there were statistical differences ( P<0.05); systolic and diastolic blood pressure in severe group were higher than that in mild group before treatment, and there were statistical differences ( P<0.05). LF/HF was positively correlated with AHI, mean heart rate, systolic and diastolic blood pressure ( P<0.05), and negatively with HRV triangle index ( P<0.05). Conclusions:Symptoms of OSAHS patients recover gradually after UPPP, and the recovery of autonomic nerve function is correlated with AHI, heart rate and blood pressure.

Abstract: Objective　To evaluate the value of bronchoalveolar lavage fluid Aspergillus-specific fluorescent PCR assay combined with galactomannan (GM) assay in the diagnosis of patients with non-neutropenic invasive pulmonary aspergillosis (IPA). Methods From March 2022 to December 2023, 113 hospitalized patients with clinically suspected IPA were selected from the Zibo First Hospital of Zibo City, Shandong Province. Bronchoalveolar lavage fluid samples from each patient were simultaneously subjected to potassium hydroxide microscopy, fungal culture, GM assay, and Aspergillus-specific fluorescence PCR assay. According to the diagnostic criteria of IPA, patients were divided into clinically diagnosed IPA and non-IPA groups. The values of these four methods for the diagnosis of IPA were compared. Results According to the diagnostic criteria for IPA, 37 out of the 113 suspected patients were clinically diagnosed as IPA. The proportion of diabetic patients was significantly higher in the IPA group compared to the non-IPA group (χ2=7.494, P=0.006); similarly, the proportion of patients using glucocorticoids was significantly higher in the IPA group (χ2=6.981, P=0.008). Patients in the IPA group more frequently showed cavitation within consolidation areas on imaging, which was statistically significant (χ2=15.603, P<0.001). There were significant differences in the sensitivity of the four fungal detection methods in the diagnosis of IPA (χ2=45.803, P<0.001), with Aspergillus-specific PCR assay showing the highest sensitivity at 94.59%. Specificity also varied significantly across the four methods (χ2=31.511, P<0.001), with the highest specificity being seen in potassium hydroxide microscopy and fungal culture at 100.00%. There were significant differences in the clinical coincidence rate of the four methods in the diagnosis of IPA (χ2=11.768, P=0.008), with Aspergillus-specific fluorescence PCR assay having the highest coincidence rate at 90.27%. The AUC of the ROC curve of Aspergillus-specific fluorescent PCR assay combined with the GM assay was 0.976 7, higher than 0.913 8 by Aspergillus-specific fluorescent PCR assay merely. Conclusions The combination of Aspergillus-specific fluorescent PCR assay and GM assay using bronchoalveolar lavage fluid could significantly improve the accuracy of IPA diagnosis in patients without neutropenia.

Objective To evaluate the feasibility and efficacy of mono-modality fusion imaging using ultrasound in the intraoperative immediate evaluation of therapeutic response of liver cancer thermal ablation.Methods A total of 70 liver cancers in 53 patients that underwent thermal ablation from October to November 2015 were included in this study.Mono-modality fusion imaging using ultrasound was applied immediately after the ablation procedure to evaluate the therapeutic response of the thermal ablation.The applicable rate,the success rate of registration,the duration time,the evaluation results and the rate of supplemental ablation were recorded.Ultrasound examination was performed on the first day after ablation to evaluate the early complication.Contrast-enhanced CT/MR within 1-3 months after the procedure was regarded as the golden criteria of the treatment response.In the follow-up period,the rate of local tumor recurrence,progression-free survival and overall survival were analyzed.Results The applicable rate for mono-modality ultrasound fusion imaging is 62.9％ (44/70) while the success rate of registration is 90.9％ (40/44).The duration time for mono-modality is 2.7-7.5 min,with an average of (3.9 ± 0.9) min.Thirty-seven out of 40 liver cancers were evaluated to achieve safety margin and 3 out of 40 were not.The rate of supplemental ablation was 40％ (16/40).The rate of complete ablation was 97.3％ (36/37) according to contrast-enhanced CT/MR within 1-3 months.In the follow-up period,no local tumor recurrence was observed and the rates of intra-hepatic recurrence and overall survival were 46.7％ (14/30) and 96.7％ (29/30),respectively.Conclusions Mono-modality ultrasound fusion imaging is a convenient,feasible,safe and efficient method in the intraoperative immediate evaluation of therapeutic response of liver cancer thermal ablation.

Objective To investigate MRI appearances of aquaporin(AQP) and its effect in different brain regions of patients with Parkinson's disease(PD).Methods A prospective study was carried out in 33 PD patients(PD group) and 23 gender-and age-matched healthy controls (control group).Clinical data of PD patients were collected.The aquaporin imaging of diffusion-weighted magnetic resonance imaging (MRDWI) with multiple b-values in different brain regions were performed to detect the apparent diffusion coefficient(AQP-ADC) values of aquaporin.The PD patients were assessed and graded by modified Hoehn-Yahr grading,then the AQP-ADC values of control group,mild PD group,moderate and severe PD group were analyzed using one-way analysis of variance.The correlation analysis was carried out to detect the relationship between AQP-ADC values in different brain regions and Hoehn-Yahr grading of PD patients.Results Compared with control group,mild PD group had significantly higher AQP-ADC values in red nucleus(RN) and globus pallidus(GP) ((0.24±0.04) vs (0.21±0.04),(0.21±0.04) vs (0.16±0.04);both P＜0.05);while the AQP-ADC values in RN and GP of moderate and severe PD group were significantly lower than that of mild PD group((0.21±0.02) vs (0.24±0.04),(0.18±0.03) vs (0.21±0.04);both P＜0.05);but there was no significant difference between moderate and severe PD group and control group(P＞0.05);and there was also no significant difference in substantianigra (SN),putamen (Pu) and thalamus (THA) among control group,mild PD group and moderate and severe PD group(P＞0.05).The correlation analysis showed that there were negative correlations between the AQP-ADC values in RN and GP and Hoehn-Yahr grading(r=-0.479 and-0.395,P＜ 0.05),while there was no correlation in SN,Pu and THA (P＞ 0.05).Conclusion The AQPADC values are increased in RN and GP of mild PD patients,and decreased in moderate and severe PD patients,while there is no significant change in SN,Pu and THA of the two groups,suggesting that the expression of AQP in different brain regions may be related to the severity and pathological stage of PD.

OBJECTIVE:To observe the influence and safety of dexmedetomidine (DEX) on intraoperative wake-up quality of patients underwent neurosurgical surgery. METHODS:126 patients with general anesthesia in neurosurgery were enrolled and randomized equally into observation group and control group,with 63 cases in each group. Control group was given target con-trolled infusion of propofol with plasma target concentration of 3-5 μg/ml and remifentanil with target effect site concentration of 2-6 ng/ml for anesthesia induction and maintenance,and then plasma target concentration of remifentanil decreased to 0.5 ng/ml 30 min before wake-up. Observation group received target controlled infusion of propofol with plasma target concentration of 3-5 μg/ml and remifentanil with target effect site concentration of 2-6 ng/ml for anesthesia induction and maintenance,and then given DEX 0.3 μg/kg intravenously 30 min before wake-up and maintained at 0.1 μg/(kg·h). MAP,HR,SBP,SaO2,serum levels of IgA,IgM,IgG,IL-6,IL-8 and TNF-α were observed in 2 groups 2 h before operation(T1)and after extubation(T2)as well as the occurrence of ADR during wake-up. RESULTS:There was no statistical significance in HR,MAP,SBP,SaO2,IgA,IgM, IgG,IL-6,IL-8 and TNF-α levels at T1 and SaO2 levels at T2 between 2 groups(P>0.05). HR,MAP,SBP,IL-6 and TNF-α lev-els of observation group decreased significantly at T2 and lower than those of control group;IgA,IgM and IgG increased signifi-cantly and higher than those of control group,with statistical significance (P<0.05). The incidence of bucking in observation group was significantly lower than control group,with statistical significance(P<0.05);there was no statistical significance in the incidence of ADR as dysphoria,awareness rate during operation,respiratory depression,body movement,bradycardia between 2 groups (P>0.05). CONCLUSIONS:DEX influence intraoperative wake-up quality of patients underwent neurosurgical surgery slightly,and can reduce inflammatory reaction with less ADR.

OBJECTIVE:To investigate the effect of different doses ambroxol hydrochloride on lung protection of patients in perioperative thoracotomy. METHODS:60 patients in perioperative thoracotomy were randomly divided into control group(30 cas-es)and observation group(30 cases). Control group received 30 mg Ambroxol hydrochloride injection from 1 week before surgery to 1 week after surgery,adding into 100 ml 0.9% Sodium chloride injection,intravenously,twice a day. Observation group re-ceived 300 mg Ambroxol hydrochloride injection from preoperative 1 week to postoperative 1 week,adding into 100 ml 0.9%Sodi-um chloride injection,intravenously,twice a day. All patients received the second-generation cephalosporin antimicrobial drugs for anti-infection after surgery. lung surfactant-associated protein A(SP-A),intercellular adhesion molecule(ICAM-1)levels preopera-tive 1 week and postoperative 1 week,and incidence of postoperative complications in 2 groups were observed. RESULTS:Preop-erative 1 week,there were no significant differences in the SP-A and ICAM-1 in 2 groups(P>0.05). Postoperative 1 week,SP-A and ICAM-1 in control group and ICAM-1 in observation group were significantly higher than preoperative 1 week,but SP-A and ICAM-1 in observation group were lower than control group,the differences were statistically significant(P<0.05),there were no significant differences in SP-A in preoperative 1 week and postoperative 1 week(P>0.05). The incidence of postoperative compli-cations in observation group was significantly lower than control group,the difference was statistically significant(P<0.05). CON-CLUSIONS:The effect of high-doses ambroxol hydrochloride on lung protection of patients in perioperative thoracotomy is signifi-cantly superior to small dose,which can reduce the incidence of lung complications.

Objective To assess effects of stress dynamic CT myocardial perfusion imaging (CT-MPI) combined with coronary CT angiography (CCTA) on the diagnosis of myocardial perfusion defects in coronary artery disease (CAD). Methods Patients with CAD diagnosed by CCTA underwent ATP stress CT-MPI examination. Single-photon emission computed tomography (SPECT) myocardial perfusion imaging (SPECT-MPI) was performed within one week and set as the reference standard. CT-MPI results were qualitatively analyzed, and myocardial blood flow (MBF), myocardial blood volume (MBV) as well as time to peak (TTP) were quantified according to CT-MPI. Effects of CCTA, CT-MPI, and CT-MPI combined with CCTA on predicting myocardial perfusion defects were assessed in comparison with NMPI. Results Thirty patients [(54.8±8.4)years] were enrolled in our study, 20 were men (68%). MBF [(79.3±18.0) versus (135.1± 35.2) ml·100 ml-1·min-1] and MBV [(8.9±2.9) versus (13.8±8.9) ml/100 ml] were significantly decreased in hypoperfused segments compared with normal segments, while TTP was increased in hypoperfused segments [(13.9 ± 2.5)s] compared with normal segments [(9.1 ± 2.1)s] (t=0.302, 0.866 and 0.024 respectively, all P values<0.01). The sensitivity, specificity of CT-MPI for identifying segments with perfusion defects were 91.3%(147/161), 84.6%(281/332), respectively. On a per-vessel basis, the area under the receiver operating characteristic curve for predicting myocardial perfusion defects were 0.635(95%CI:0.517—0.753) for CCTA, 0.709(95%CI:0.599—0.819)for CT-MPI, and 0.837(95%CI:0.749—0.925)for CT-MPI combined with CCTA, respectively. Conclusions The performance of stress dynamic CT-MPI in the diagnosis of myocardial perfusion defects in CAD was good. One-stop examination of CT-MPI combined with CCTA improves the diagnostic accuracy for identifying flow-obstructing stenosis.

Objective To investigate the correlation of serum complement C3,C4 and C5b-9 levels with myocardial injury in patients with Acute Coronary Syndrome( ACS) . Methods From July 2015 to July 2017, one hundred and eighty patients with ACS admitted to the Department of Cardiology,the 425th Hospital of PLA Sanyawere selected,including 80 patients with non-ST-elevation ACS ( NSTE-ACS group) and 100 patients with ST-elevation myocardial infarction ( STEMI group ) . The content of cardiac troponin T ( TnT ) , creatine kinase isoenzyme (CK-MB),N terminal B type natriuretic peptide precursor (NT-proBNP),fibrinogen (Fib),soluble intercellular adhesion analysis 1 ( sICAM 1 ) , left ventricular ejection fraction ( LVEF ) were measured in the patients according to the global acute coronary event registration ( GRACE) score. The levels of complement C3, C4 and C5b-9 were measured by ELISA at 1,3 and 7 days after admission. Results Comparing the two groups, the smoking history of group STEMI was 33. 00％,significantly lower than that of group NSTE-ACS 61. 25％ ( P<0. 01) . The level of TnT,CK-MB,sICAM 1 and NT-proBNP in group STEMI was significantly lower than that in group NSTE-ACS ( t=60. 686,64. 010,47. 824,12. 975,P=0. 001) ,and the level of LVEF was significantly higher than that in the NSTE-ACS group ( t=10. 560,P=0. 001) . The levels of C3,C4 and C5b-9 in STEMI group were significantly higher than those in NSTE-ACS group (12. 946,8. 965,18. 125 in F group,P<0. 05), and the levels of C4 and C5b-9 in STEMI group were significantly higher than those in NSTE-ACS group on the 3rd and 7th day of onset ( P<0. 05) . According to GRACE score,there were significant differences in troponin T,soluble intercellular adhesion molecule 1,left ventricular ejection fraction,C3 and C4 among low-risk group, middle-risk group and high-risk group ( F=107. 636, 338. 866, 21. 708, 10. 923, 3. 229, P=0. 001 ) , Soluble intercellular adhesion molecule 1 ( SIAM 1) in high-risk group and middle-risk group was significantly higher than that in low-risk group. Troponin T, SIAM 1, C3 and C4 in high-risk group were significantly higher than those in the other two groups,while left ventricular ejection fraction was significantly lower than those in the other two groups ( P<0. 05 ) . The levels of C3, C4, C5b-9 were positively correlated with troponin T and soluble intercellular adhesion molecule 1 ( r=0. 488, 0. 358, 0. 291, 0. 297, 0. 251, 0. 289, P<0. 05 ) , and negatively correlated with left ventricular ejection fraction ( r=- 0. 392,-0. 259,-0. 215,P<0. 05) . Epithelial molecule 1 was correlated with left ventricular ejection fraction ( r=-0. 340,P=0. 001) ,and soluble intercellular adhesion molecule 1 was correlated with troponin T ( r=0. 533,P=0. 001) . Conclusion The activation mechanism of complement system in acute ischemic necrosis and its relationship with inflammatory factors have important clinical research value. C3,C4 and C5b-9 as an important component of complement system may be involved in the process of myocardial injury,and can be used as an indicator of myocardial injury.