OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Neurofibromatosis-Noonan syndrome (NFNS). METHODS: A child with NFNS who was treated at the Department of Endocrinology of Hangzhou Children's Hospital in January 2024 was selected as the study subject. Clinical data of the child was collected by retrospective analysis. Peripheral venous blood samples (2 mL each) were collected from the child and his parents. Genomic DNA was extracted, and trio-whole exome sequencing (Trio-WES) of the family was carried out. Sanger sequencing was used to perform family verification on the candidate variants. The identified variants were classified for pathogenicity according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereafter referred to as the "ACMG guidelines"). This study has been approved by the Medical Ethics Committee of Hangzhou Children's Hospital (Ethics No. 2021-06). RESULTS: The child was a 7-year and 4-month-old male. He has short stature, numerous café-au-lait spots on the neck and trunk, and special facial features such as a full forehead, wide interpupillary distance, a low nasal bridge, and low-set ears. The results of Trio-WES showed that the he had harbored the NF1 gene c.3773G>T (p.W1258L) mutation, which was verified by Sanger sequencing to be de novo in origin. The NF1 gene was associated with NFNS, which has an autosomal dominant inheritance. According to the ACMG guidelines, this variant was judged to be a likely pathogenic variant (PS2+PM2+PP3+PP2). No pathogenic variant in genes associated with Noonan syndrome, such as PTPN11, SOS1, RAF1, RIT1, and KRAS, was found. CONCLUSION The child with NFNS has clinical features such as short stature, special facial features, and café-au-lait spots. The c.3773G>T (p.W1258L) variation in the NF1 gene may be the genetic etiology of the NFNS child in this study. The results of this study has enriched the variation spectrum of the NF1 gene.
Child ; Humans ; Male ; Exome Sequencing ; Mutation ; Neurofibromatosis 1/genetics* ; Neurofibromin 1/genetics* ; Noonan Syndrome/genetics*

Objective To investigate the difference of facial soft tissue changes in patients with different vertical bone facial types after orthodontic treatment.Methods A total of 137 female patients with class Ⅱ malocclusion aged 18 to 30 years old were selected for retrospective analysis using facial soft tissue 3D model data.According to the mandibular plane angle(FH-MP)angle,they were divided into high angle group,average angle group and low angle group.The EinScan Pro 2X 2020 handheld high-precision 3D scanner was used to capture facial soft tissue images of patients before treatment(T0)and at 6 months during treatment(T1)and after treatment(T2).The patients'facial images were overlapped using reverse engineering software Geomagic Wrap 2021,and the differ-ences within and between groups were statistically analyzed using SPSS 26.0 statistical software.Results Before and after orthodontic treatment,the average overall facial changes in the high angle group were(-3.25±0.22)mm,in the average angle group was(-3.28±0.30)mm,and in the average low angle group was(-3.69±0.36)mm.Compared with the other two groups,the changes in the low angle group decreased more,and the difference was statistically significant(P＜0.05).The mandibular angle area and temporal area decreased the most in the low angle group,which were(-2.78±0.18)mm and(-2.27±0.35)mm,respectively,and the differ-ence was statistically significant compared with the other two groups(P＜0.05),while there was no statistically significant difference among the other groups(P＞0.05).Conclusion The whole face and all facial regions of the three groups had some negative changes,but the collapse in the mandibular angle area and the temporal muscle ar-ea of the low angle group was more obvious than that of the other two groups.

Objective To explore the application value of deep learning image reconstruction(DLIR)with coronary computed tomography angiography(CCTA)using 100 kV.Methods Sixty patients who underwent CCTA were selected.The tube voltage of 100 kV,noise index of 24 were applied.The 60％adaptive statistical iterative reconstruction-Veo(ASIR-V)and DLIR-low(DLIR-L),DLIR-medium(DLIR-M)and DLIR-high(DL1R-H)were reconstructed.The CT values and standard deviation(SD)values of the aortic root,left main artery,left anterior descending artery,left circumflex artery,right coronary artery and pericardial fat of the four groups of images were measured,and the signal-to-noise ratio(SNR)and contrast-to-noise ratio(CNR)were calculated.Two radiologists with five-year working experience subjectively evaluated the image quality using a five-point method double-blindly.Results The differences in noise(SD values),SNR values and CNR values among the four groups of images were statistically significant(P＜0.001).As the reconstruction gradually changed of 60％ASIR-V,DLIR-L,DLIR-M and DLIR-H,the coronary SD values gradually decreased,while the SNR values and CNR values gradually increased,among which the DLIR-H had the lowest SD values and the highest SNR values and CNR values.The subjective scores of the four groups of images by two radiologists showed good consistency(Kappa value=0.929,P＜0.001),and the subjective scores were all above 3 points which met the clinical diagnosis criteria.The subjective scores of DLIR-L,DLIR-M and DLIR-H were significantly higher than those of 60％ASIR-V(P＜0.001),with the DLIR-H achieving the highest subjective score.Conclusion DLIR can significantly reduce image SD value and improve image quality of CCTA with 100 kV,among which DLIR-H has the best effect on improving CCTA image quality.

Objective:To evaluate the accuracy of glomerular filtration rate (GFR) assessed from the renal dynamic imaging method (Gates method) with 99Tc m-diethylene triamine pentoacetic acid (DTPA) in the heart transplant population. Methods:From September 2017 to June 2018, 34 patients with advanced heart failure who were prepared for surgery (30 males, 4 females; age: (45±14) years; heart transplant group) and 41 patients with normal heart function (19 males, 22 females; age: (50±17) years; control group) in Fuwai Hospital were respectively enrolled. GFRs of all patients were measured using Gates method (gGFR) and dual plasma sample method (DPSM; dGFR) with 99Tc m-DTPA. The accuracy of Gates method for detecting GRF was verified by using DPSM as the reference. Seventeen patients in heart transplant group underwent 99Tc m-DTPA renal dynamic imaging for Gates and DPSM results repeatedly after the surgery. The single kidney (left and right) functions (dGFRL and dGFRR) of DPSM were obtained according to the results of Gates method. Pearson correlation analysis and paired t test were used to analyze the data. Results:The gGFR in heart transplant group was higher than dGFR ((66.49±15.66) vs (49.16±13.24) ml·min -1·1.73 m -2; t=6.728, P<0.01), and there was a moderate correlation between them ( r=0.467, P<0.01). No difference between gGFR and dGFR in control group was observed ((65.35±26.28) vs (62.22±21.37) ml·min -1·1.73 m -2; t=1.268, P=0.212), and there was a good correlation between them ( r=0.799, P<0.01). The difference between 2 correlation coefficients was statistically significant ( z=-2.44, P<0.05). Serum creatinine decreased, while dGFR, dGFRL and dGFRR increased after the surgery, suggesting the improved renal function. Conclusions:The renal dynamic imaging method (Gates method) with 99Tc m-DTPA has less accuracy in the heart transplant patients. Combination of DPSM and Gates method can provide the precise total GFR and assess single kidney GFR, and may serve as a tool to monitor the renal function for the heart transplant patients in clinic.

Objective To observe the metabolic changes of subcortical structures in children with intractable epilepsy using 18 F-FDG PET/CT,and to investigate the mechanism of subcortical structure involvement in epileptic seizures and its clinical significance.Methods Features of 18F-FDG PET/CT imaging in 611 intractable epilepsy children were analyzed.The metabolic changes of cortex and subcortical structures (basal ganglia,thalamus and cerebellum) were observed.The children were divided into three groups (young,middle and older groups) according to age,also mild group and severe group according to the number of involved lobar,respectively.The incidence of metabolic abnormalities in subcortical structures of different groups were analyzed.Results Among 611 children,unilateral cortical metabolic abnormality was found in 525,and bilateral cortical metabolic abnormalities were found in 86 children.The involvement of subcortical structures was detected in 190 children,including basal ganglia (n=64),thalamus (n=113) and cerebellum (n=105).The incidence of metabolic abnormality in subcortical structures under different age groups was not statistically different (all P＞ 0.05),while the incidence of metabolic abnormality in subcortical structures of severe group was significantly higher than that of mild group (all P＜0.001).Conclusion 18 F-FDG PET/CT might be able to detect the metabolic abnormalities of subcortical structures,therefore indicating the involvement of cerebral cortex.

Objective To investigate the characteristics of metabolic foci on 18F-fluorodeoxyglucose (FDG) PET/CT scan in pediatric patients with epilepsy.Methods Twenty-three pediatric patients (15 males,8 females,age range:0.5-13.3 years) with epilepsy were retrospectively reviewed from March 2014 to December 2016.All patients underwent 18F-FDG PET/CT and metabolic foci were found.The visual method and semi-quantitative analysis were used to analyze images.Fourteen of them underwent surgery and were followed up for 3-24 months.Results Glucose hypermetabolism were observed most frequently in the frontal and parietal lobes,with or without surrounding/remote hypometabolism.On the day of PET/CT imaging,8 patients had no seizures,14 patients had seizures,and 1 patient was uncertain.The sites of resection were consistent with the regions of hypermetabolism in 9 patients,among whom the pathological results showed 8 cortical malformations and 1 Rasmussen's syndrome.Follow-up results for the above 9 patients showed that there was 7 Engel class Ⅰ patients and 2 Engel class Ⅲ patients.Conclusion The hypermetabolism may mostly appear in the frontal and parietal lobes of pediatric patients with epilepsy,and malformations of cortical development seem to be the most common pathology results.

Objective To observe the effect of dexmedetomidine in cerebral aneurysm embolization in pa-tients with hypertension. Methods Sixty patients with hypertension undergoing emergency cerebral aneurysm em-bolization were randomly divided into two groups:research group(dexmedetomidine given group) and control group. SBP,DBP,HR,plasma norepinephrine(NE):baseline value(T0),before intubation(T1),after intubation (T2),after extubation(T3). Extubation time and anesthetic-related complications were also recorded. Results The hemodynamic parameters and plasma norepinephrine concentration in the research group were more stable than those in the control group at different time point during perioperative period. There was no difference between two groups about extubation time. The incidence of anesthetic-related complications in research group was lower than control group(P < 0.05). Conclusions Dexmedetomidine can reduce the stress response of intubation ,extuba-tion and perioperative hemodynamic fluctuations in cerebral aneurysm embolization in patients with hypertension. It can also reduce the consumption of prorofol and the incidences of adverse effects.

Objective To investigate the clinical value of 18 F?FDG PET/CT in staging multiple myeloma ( MM) and evaluating the glucose metabolic activity of MM. Methods A total of 25 MM patients ( 13 males, 12 females, age:39-67 years) from May 2010 to April 2015 were enrolled in this retrospective study. The SUVmax of each patient was recorded. D?S plus staging according to 18 F?FDG PET/CT was com?pared with the traditional D?S staging. The SUVmax and the percentage of plasmacytes of bone marrow of phase Ⅲ and non?phase Ⅲ ( phaseⅠand Ⅱ) according to D?S plus staging were compared. Two?sample t test and Wilcoxon rank sum test were used to analyze the data. Results In 25 MM patients, the range of SUVmax of lesions was 1.8-12?0 and the mean value was 5.15±2.74. According to D?S staging, the numbers of patients with phase Ⅰ,Ⅱ andⅢwere 7, 4 and 14, respectively. While the numbers were 3, 1 and 21 by D?S plus staging. Based on the D?S plus staging system, stages of 7 patients ( 28%, 7/25 ) were changed. According to the D?S plus staging system, the SUVmax between phaseⅢand non?phaseⅢpatients was significantly different (5.75±2.54 vs 3.00±0?70; t=2.12, P<0.05), while the percentage of plasma?cytes of bone marrow between the 2 groups had no significant difference ( 17. 50%( 4. 25%-41. 75%) vs 11?15%(10.25%-36.57%);z=0.05, P>0.05). Conclusion 18F?FDG PET/CT is of clinical importance for MM staging and metabolic activity assessment of MM.

Objective To explore the clinical application and value of percutaneous transhepatic gallbladder drainage (PTGD)under CT guide in high-risk emergency.Methods In all 57 old patients with high-risk acute cholecystitis in emergency,cuff-PTGD in 39 was performed and fractional step PTGD in 18 was also used.Results PTGD was successfully in all patients.After PTGD,except for 1 patient died of severe cardiac insufficiency,the abdominal pain and fever were alleviated during 72 hours,and the complications was not demonstrated.Conclusion As a safe,noninvasive and accurate method,CT-guided PTGD may relieve symptoms quickly,reduce the mortality and improve the treatment for some old patients with high risk acute cholecystitis.