This report described the diagnosis and management of a case of multiple synostosis syndrome type 3 associated with a variant in the fibroblast growth factor 9 ( FGF9) gene. The neonate presented characteristic features at birth including limited flexion-extension of the right elbow, left talipes equinovarus, frontal bossing, and craniosynostosis. Whole-exome sequencing identified a heterozygous missense variant FGF9 c.566C>G (p.Pro189Arg), subsequently confirmed by Sanger sequencing as maternally inherited. This specific variant has not been previously reported in association with craniosynostosis. The infant underwent staged bilateral craniosynostosis surgeries at 2 and 3 months of age. At the 16-month follow-up, the Gesell Developmental Schedule indicated a general developmental quotient of 93 with normal performance across all functional domains, demonstrating no psychomotor delay.

Objective:To investigate the efficacy and safety of Doxycycline in the treatment of Mycoplasma pneumoniae pneumonia (MPP). Methods:Case series study.A retrospective observational study was conducted on 202 patients diagnosed with MPP in Beijing United Family Hospital from January 2022 to January 2024.The patients were divided into 3 groups according to antibiotics used: Azithromycin group which enrolled 93 cases, 60 cases (Azithromycin alone group) were included after excluding 33 cases with adding steroids; Doxycycline group which enrolled 32 case, 31 cases (Doxycycline alone group) were included after excluding 1 case with adding steroids; Azithromycin switch to Doxycycline when diagnosed Macrolides-unresponsive MPP(MUMPP). Azithromycin switch to Doxycycline group which enrolled 77 cases, 73 cases (switch group) were included after excluding 4 cases with adding steroids.Results used the Mann-Whitney U test, Chi-square test or exact test analyse, comparing the differences in defervescene time, hospitalization day, outcomes and side effects in each group. Results:The fever duration in the Doxycycline alone group was 48(36, 48) h, which was significantly shorter than that in the Azithromycin alone group[120(120, 144) h] ( Z=-7.646, P<0.001). The hospitalization time in the Doxycycline alone group was [3(3, 4) d], which was significantly shorter than that in the Azithromycin alone group [4(3, 5) d] ( Z=-3.368, P=0.002). The medium fever duration in the switch group after Azithromycin was changed to Doxycycline was 48 h, which was not statistically significantly different from that in the Doxycycline alone group ( Z=-0.571, P=0.849). The medium hospitalization time in the switch group after Azithromycin changed to Doxycycline was 4 d, which was significantly longer than that in the Doxycycline alone group (3 d) ( Z=-2.759, P=0.008). Among 93 cases enrolled in the Azithromycin group, 33 cases (35.5%) converted to unresponsive MPP(UMPP), 23 cases (24.7%) progressed to refractory MPP (RMPP), and 33 cases (35.5%) added steroids.Among 32 cases included in the Doxycycline group, 1 case (3.1%) converted to UMPP, no case developed to RMPP, and 1 case (3.1%) added steroids.The above-mentioned 3 proportions were significantly different between the two groups (all P<0.001). Among 93 cases enrolled in the Azithromycin group, 11 cases (11.8%) progressed to severe MPP (SMPP), and 13 cases (14.0%) developed complications.In 32 cases included in the Doxycycline group, 1 case (3.1%) progressed to SMPP, and 3 cases (9.4%) developed complications.The difference in these 2 proportions was not statistically significant between the two groups ( P=0.294, 0.760). In 77 patients included in the Azithromycin switch to Doxycycline group, there were 4 cases converting to UMPP, 4 cases converting to RMPP and 4 cases adding steroids, which were not statistically significantly different from those in the Doxycycline group (all P=0.540). In the Azithromycin switch to Doxycycline group, there were 3 cases progressing to SMPP, and 7 cases developed complications, which were not statistically significantly different from those in the Doxycycline group (all P=1.000). Conclusions:Doxycycline can improve the fever symptom, shorten illness duration and hospitalization time, and reduce steroid usage and the proportions of UMPP and RMPP in pediatric MPP.Switching to Doxycycline is recommended for MUMPP patients as Doxycycline is effective for the treatment of pediatric MPP and no tetracycline pigmentation teeth now.

Objective:To investigate the efficacy and safety of Doxycycline in the treatment of Mycoplasma pneumoniae pneumonia (MPP). Methods:Case series study.A retrospective observational study was conducted on 202 patients diagnosed with MPP in Beijing United Family Hospital from January 2022 to January 2024.The patients were divided into 3 groups according to antibiotics used: Azithromycin group which enrolled 93 cases, 60 cases (Azithromycin alone group) were included after excluding 33 cases with adding steroids; Doxycycline group which enrolled 32 case, 31 cases (Doxycycline alone group) were included after excluding 1 case with adding steroids; Azithromycin switch to Doxycycline when diagnosed Macrolides-unresponsive MPP(MUMPP). Azithromycin switch to Doxycycline group which enrolled 77 cases, 73 cases (switch group) were included after excluding 4 cases with adding steroids.Results used the Mann-Whitney U test, Chi-square test or exact test analyse, comparing the differences in defervescene time, hospitalization day, outcomes and side effects in each group. Results:The fever duration in the Doxycycline alone group was 48(36, 48) h, which was significantly shorter than that in the Azithromycin alone group[120(120, 144) h] ( Z=-7.646, P<0.001). The hospitalization time in the Doxycycline alone group was [3(3, 4) d], which was significantly shorter than that in the Azithromycin alone group [4(3, 5) d] ( Z=-3.368, P=0.002). The medium fever duration in the switch group after Azithromycin was changed to Doxycycline was 48 h, which was not statistically significantly different from that in the Doxycycline alone group ( Z=-0.571, P=0.849). The medium hospitalization time in the switch group after Azithromycin changed to Doxycycline was 4 d, which was significantly longer than that in the Doxycycline alone group (3 d) ( Z=-2.759, P=0.008). Among 93 cases enrolled in the Azithromycin group, 33 cases (35.5%) converted to unresponsive MPP(UMPP), 23 cases (24.7%) progressed to refractory MPP (RMPP), and 33 cases (35.5%) added steroids.Among 32 cases included in the Doxycycline group, 1 case (3.1%) converted to UMPP, no case developed to RMPP, and 1 case (3.1%) added steroids.The above-mentioned 3 proportions were significantly different between the two groups (all P<0.001). Among 93 cases enrolled in the Azithromycin group, 11 cases (11.8%) progressed to severe MPP (SMPP), and 13 cases (14.0%) developed complications.In 32 cases included in the Doxycycline group, 1 case (3.1%) progressed to SMPP, and 3 cases (9.4%) developed complications.The difference in these 2 proportions was not statistically significant between the two groups ( P=0.294, 0.760). In 77 patients included in the Azithromycin switch to Doxycycline group, there were 4 cases converting to UMPP, 4 cases converting to RMPP and 4 cases adding steroids, which were not statistically significantly different from those in the Doxycycline group (all P=0.540). In the Azithromycin switch to Doxycycline group, there were 3 cases progressing to SMPP, and 7 cases developed complications, which were not statistically significantly different from those in the Doxycycline group (all P=1.000). Conclusions:Doxycycline can improve the fever symptom, shorten illness duration and hospitalization time, and reduce steroid usage and the proportions of UMPP and RMPP in pediatric MPP.Switching to Doxycycline is recommended for MUMPP patients as Doxycycline is effective for the treatment of pediatric MPP and no tetracycline pigmentation teeth now.

This report described the diagnosis and management of a case of multiple synostosis syndrome type 3 associated with a variant in the fibroblast growth factor 9 ( FGF9) gene. The neonate presented characteristic features at birth including limited flexion-extension of the right elbow, left talipes equinovarus, frontal bossing, and craniosynostosis. Whole-exome sequencing identified a heterozygous missense variant FGF9 c.566C>G (p.Pro189Arg), subsequently confirmed by Sanger sequencing as maternally inherited. This specific variant has not been previously reported in association with craniosynostosis. The infant underwent staged bilateral craniosynostosis surgeries at 2 and 3 months of age. At the 16-month follow-up, the Gesell Developmental Schedule indicated a general developmental quotient of 93 with normal performance across all functional domains, demonstrating no psychomotor delay.

The limitations of endovascular repair technology for organ arterial injury at the present stage were analyzed,and an endovascular repair device for organ arterial trunk injury was designed to make up for the shortcomings of the existing technology and improve the success rate of treatment.The new balloon injection device is mainly used for the repair of organ arterial trunk injury,which has good passing ability,can effective repair wound and hemostasis,and protect organ function.In clinical practice,it provided a new treatment method for visceral artery trunk injury with limited use of conventional endovascular treatment techniques and no open surgery opportunity.This device can effectively solve the problems of organ dysfunction caused by arterial embolization in the case of arterial trunk injury,and limited by the degree of tube tortuous in the case of stent isolation surgery.

Objective To investigate the protective effect of herba artemisiae scopariae extract on multidrug resistance protein 3(MDR3)gene mutation-induced neonatal parenteral nutrition-associated cholestasis(PNAC)and its possible mechanism.Methods ①Human primary hepatocytes were treated with cell culture in vitro,CRISPR/Cas9 lentivirus infection and MDR3 mutant gene lead-in.The levels of hepatic and biliary biochemical indexes[alanine transaminase(ALT),aspartate transaminase(AST),total bilirubin(TBil),direct bilirubin(DBil),indirect bilirubin(IBil),total bile acid(TBA)]in the supernatant of hepatocytes before and after 16,32,48 hours were compared to determine the time required for fatty acid induction of PNAC hepatocyte model with MDR3 gene mutation.② Human primary hepatocytes were divided into blank control group,MDR3 gene wild type group,MDR3 gene mutation group,and herba artemisiae scopariae extract intervention group according to random number table method.The blank control group was treated with culture medium only,the MDR3 gene wild type group was infected with lentivirus and mixed with wild type MDR3 gene and culture medium,the MDR3 gene mutation group was infected with lentivirus and cultured in culture medium with the mutant genes lead-in of LV-MDR3KI(c.485T>A,c.2793insA,c.1031G>A,c.3347G>A)mutation,while the MDR3 mutant gene was lead-in by lentivirus infection and cultured in culture medium,and then pretreated with 100 g/L herba artemisiae scopariae extract in the herba artemisiae scopariae extract intervention group,then the four groups of hepatocytes were induced with 1%fat emulsion,and the treatment time was the time needed to construct the PNAC hepatocytes model with MDR3 gene mutation.The levels of ALT,AST,TBil,DBil,IBil and TBA in the supernatant of hepatocytes were measured by enzyme-linked immunosorbent assay(ELISA).The mRNA expression abundance of adenosine triphosphate binding cassette proteins(ABCB4,ABCB11,ABCC2,ABCC3,ABCC4)encoding MDR3,bile salt export pump(BSEP),multidrug resistance associated protein(MRP)2-4,and tumor necrosis factor-α(TNF-α)genes were detected by real-time fluorescence quantitative polymerase chain reaction(RT-qPCR).Results Compared to the blank control group and MDR3 gene wild type group,there was no significant difference in the levels of ALT,AST,TBil,DBil,IBil,TBA in the supernatant of MDR3 gene mutant group before and 16 hours after induction with 1%fat emulsion,however after treated with 1%fat emulsion for 32 hours and 48 hours,the levels of ALT,AST,TBil,DBil,IBil,TBA in the supernatant of MDR3 mutant hepatocytes were significantly increased(P<0.05),consequently the time required for fatty acid induction of PNAC hepatocyte model was 32 hours.At 32 hours after treatment with fat emulsion,the levels of ALT,AST,TBil,DBil,TBA in the supernatant of hepatocytes in the herba artemisiae scopariae extract intervention group were significantly decreased[ALT(ng/L):148.3±2.3 vs.164.9±7.0,AST(ng/L):2767.4±78.8 vs.3239.4±107.1,TBil(μmol/L):7.6±0.2 vs.13.6±0.3,DBil(μmol/L):1.8±0.1 vs.5.7±0.2,TBA(μmol/L):3.4±0.2 vs.6.7±0.1,all P<0.05].The ABCB4,ABCC2,ABCC3,ABCC4 mRNA expression of MDR3,MRP2,MRP3,MRP4 in the blank control group,MDR3 wild type group,MDR3 gene mutation group and the herba artemisiae scopariae extract intervention group had no significant difference.The expression of TNF gene mRNA was highly expressed in MDR3 gene mutation group(2-??Ct:1.258±0.200 vs.1.001±0.052),and was low expressed in the herba artemisiae scopariae extract intervention group(2-??Ct:0.387±0.247 vs.1.258±0.200),and there was a significant difference between the two groups(both P<0.05).Compared to the MDR3 gene mutation group,the ABCB11 gene encoding BSEP mRNA expression in the herba artemisiae scopariae extract intervention group was significantly increased(2-??Ct:2.955±0.479 vs.1.333±0.529,P<0.05).Conclusion The herba artemisiae scopariae extract has a protective effect on PNAC induced by MDR3 gene mutation,which may be related to antagonizing inflammatory reaction,decreasing the expression of TNF mRNA and improving the expression of ABCB11 gene encoding BSEP.

Objective:To evaluate the feasibility of artificial intelligence (AI) diagnosis of pulmonary nodules on virtual non-contrast(VNC) images derived from dual-layer detector spectral CT.Methods:Totally 52 patients who underwent non-contrast and dual-phase enhanced chest CT scan from May 2022 to November 2022 were enrolled in this study. The VNC images of lung were reconstructed based on venous phase data. CT values and image noise of lung parenchyma, signal-to-noise ratio (SNR) were measured. The dose-length product (DLP) of each scan was recorded and the effective dose ( E) was calculated. All of the objective indicators of image quality and radiation dose were compared by Paired t test. Image quality was evaluated subjectively by two radiologists and compared with Wilcoxon non-parametric test. Wilcoxon symbolic rank test was used to compare the sensitivity and false positive detection rate (FPDR) of AI diagnosis between two groups. Results:Compared with TNC, the noise of venous VNC image was decreased by 13.8%, SNR increased by 14.9%, and both of DLP and E decreased by 33.3% ( t=5.82, -5.35, 22.93, 22.92, P <0.05). There were no significant differences in CT values and subjective scores between 2 groups ( P >0.05). For different types of pulmonary nodules, there was no statistical difference in the sensitivity of AI diagnosis between two groups ( P >0.05). For solid nodules with diameter ≤4 mm and all pulmonary nodules in general, FPDR in VNC group was slightly increased with statistical significance ( Z=-2.03, -3.09, P<0.05), while for other types of pulmonary nodules, there was no statistical difference ( P >0.05). Conclusions:The VNC images of thoracic venous phase based on spectral CT can significantly reduce the radiation dose of patients while the image quality and the AI diagnostic sensitivity of pulmonary nodules remain unchanged, and the FPDR without significantly increase. And it could replace TNC for daily routine.

Humans ; Benzodiazepines ; Hypnotics and Sedatives/therapeutic use* ; Intensive Care Units ; Midazolam

Objective:To evaluate the clinical application of three dimensional artificial intelligence(3D-AI) localization technology in chest CT scan.Methods:A total of 100 patients who underwent chest CT for COVID-19 screening in Nanjing University Medical School Affiliated Drum Tower Hospital were collected from September 2020 to October 2020 were analyzed retrospectively. The patients were divided into manual positioning group ( n=50) and 3D-AI automatic positioning group ( n=50) with block randomization method. All patients were scanned with the same CT scanning protocol. The off-center distance, CT dose index (CTDI), dose length product (DLP) and CT examination time were measured and recorded. Quantitative image evaluation of mediastinal window images and qualitative image evaluation of chest window images were assessed by two radiologists. The off-center distance, CTDI, DLP, CT examination time and objective indexes of image quality of two groups were compared by independent sample t test. The quantitative image quality scores were compared with χ 2 test. Results:Compared with manual positioning group, the overall off-center distance of 3D-AI automatic positioning group was reduced by 42.86% [(15.4±9.7) vs. (8.8±7.2)mm, t=3.65, P<0.01], CTDI was reduced by 10.67%[(7.5±2.5) vs. (6.7±2.6)mGy, t=0.59, P=0.04], DLP was reduced by 13.33%[(270±95) vs. (234±86)mGy·cm, t=1.98, P=0.02], the average examination time was reduced by 29.91% [(214±26) vs. (150±14)s, t=15.79, P<0.01]. There were no significant differences in the background noise, signal to noise ratio of descending aorta and erecting spinal muscle, and subjective score between two groups ( P>0.05). Conclusion:The 3D-AI automatic positioning technology can greatly improve the accuracy of patient positioning and reduce the radiation dose for chest CT imaging, and improve work efficiency with qualified chest CT image quality.