OBJECTIVE: To explore the genetic basis for a boy affected with Cohen syndrome. METHODS: A boy admitted to Children's Hospital of Nanjing Medical University in January 2021 was selected as the study subject. Genome DNA was extracted from peripheral blood samples from the child and his parents. Whole exome sequencing (WES) was carried out. And candidate variants were verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202106060-1). RESULTS: WES revealed that the child has harbored compound heterozygous variants of the VPS13B gene, namely c.1563+1G>A and c.3007insC (p.A1003Afs*13), which were inherited from his mother and father, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rates as pathogenic. The c.3007insC (p.A1003Afs*13) was unreported previously. CONCLUSION The compound heterozygous variants c.1563+1G>A and c.3007insC (p.A1003Afs*13) of the VPS13B gene probably underlay the pathogenesis of Cohen syndrome in this child. Above finding has enriched the mutational spectrum of VPS13B gene.
Humans ; Male ; Vesicular Transport Proteins/genetics* ; Intellectual Disability/genetics* ; Muscle Hypotonia/genetics* ; Microcephaly/genetics* ; Fingers/abnormalities* ; Myopia/genetics* ; Obesity/genetics* ; Developmental Disabilities/genetics* ; Mutation ; Exome Sequencing ; Child ; Heterozygote ; Retinal Degeneration

Objective:To investigate the application value of dual-layer detector spectral CT in the precise outlining of gross tumor volume (GTV) in lung cancer patients.Methods:Imaging data of 39 patients with pathologically confirmed lung cancer on dual-energy enhanced CT scans in Hebei Medical University Third Hospital were retrospectively analyzed. Among them, 13 patients were not complicated with lung atelectasis and 26 cases were complicated with lung atelectasis and 9 of them received positron emission computed tomography (PET-CT) scan. The virtual single-energy images of arterial and venous dual-phase 40 keV images were reconstructed with the spectral base images of Iqon dual-energy CT, and the GTV of the primary foci was outlined using the reconstructed images and conventional enhanced CT images. The GTV outlined by conventional enhanced CT image, 40 keV virtual monoenergetic (VM) CT image, 40 keV VM-iodine density (VM-ID) fusion image in the arterial phase, conventional enhanced CT image, 40 keV VM image and 40 keV VM-ID image in the venous phase and PET-CT image was defined as GTV ACT, GTV A40VM, GTV A40VMID, GTV VCT, GTV V40VM, GTV V40VMID and GTV PET-CT, respectively. The consistency of target area outlining was assessed by calculating the GTV volume, the Dice similarity coefficient (DSC), and the 95 th percentile of the Hausdorff distance (HD95). Pairwise comparison among groups was conducted by Friedman test and corrected by Bonferroni correction. Results:In GTV comparisons, the differences in GTV ACT, GTV VCT, GTV A40VM and GTV V40VM in patients without pulmonary atelectasis were not statistically significant ( χ2=1.89, P=0.595). The DSC and HD95 of GTV ACTvs. GTV A40VM were 0.96 and 3.00, and the DSC and HD95 of GTV VCTvs. GTV V40VM were 0.94 and 2.93, respectively. The differences in GTV ACT, GTV A40VM, GTV A40VMID, GTV VCT, GTV V40VM, GTV V40VMID and GTV PET-CT in patients complicated with pulmonary atelectasis were statistically significant (all P<0.001). Pairwise comparison of Bonferroni correction showed that there was no statistically significant difference in GTV A40VM, GTV A40VMID, GTV V40VM, GTV V40VMID and GTV PET-CT (all P=1.000), all of which were significantly smaller than those of GTV ACT and GTV VCT (both P=0.001), and there was no statistically significant difference between GTV ACT and GTV VCT (both P=1.000). Based on the tumor extent shown by PET-CT (standardized uptake value =2.5), DSC were slightly higher and HD95 were slightly lower than conventional enhanced CT of GTV A40VM, GTV V40VM, GTV A40VMID, GTV V40VMIDvs. GTV PET-CT, respectively. When the arterial phase sequences were compared with PET-CT, pairwise comparison of Bonferroni correction showed that the DSC and HD95 of GTV A40VMvs. GTV PET-CT and GTV ACTvs. GTV PET-CT were statistically significant (both P<0.01), and the differences were not statistically significant among the remaining groups (all P>0.05). When intravenous phase sequences were compared with PET-CT, pairwise comparison of Bonferroni correction revealed that the DSC and HD95 of GTV V40VMIDvs. GTV PET-CT and GTV VCTvs. GTV PET-CT were statistically significant (both P<0.01), and the differences were not statistically significant among the remaining groups (all P>0.05). Conclusions:The use of 40 keV VMI-ID fusion images to outline the target area of the primary tumor lesions is closer to that of PET-CT, which provides a novel option for the precise outlining of the target area of clinical radiotherapy.

Objective:To investigate the application value of dual-layer detector spectral CT in the precise outlining of gross tumor volume (GTV) in lung cancer patients.Methods:Imaging data of 39 patients with pathologically confirmed lung cancer on dual-energy enhanced CT scans in Hebei Medical University Third Hospital were retrospectively analyzed. Among them, 13 patients were not complicated with lung atelectasis and 26 cases were complicated with lung atelectasis and 9 of them received positron emission computed tomography (PET-CT) scan. The virtual single-energy images of arterial and venous dual-phase 40 keV images were reconstructed with the spectral base images of Iqon dual-energy CT, and the GTV of the primary foci was outlined using the reconstructed images and conventional enhanced CT images. The GTV outlined by conventional enhanced CT image, 40 keV virtual monoenergetic (VM) CT image, 40 keV VM-iodine density (VM-ID) fusion image in the arterial phase, conventional enhanced CT image, 40 keV VM image and 40 keV VM-ID image in the venous phase and PET-CT image was defined as GTV ACT, GTV A40VM, GTV A40VMID, GTV VCT, GTV V40VM, GTV V40VMID and GTV PET-CT, respectively. The consistency of target area outlining was assessed by calculating the GTV volume, the Dice similarity coefficient (DSC), and the 95 th percentile of the Hausdorff distance (HD95). Pairwise comparison among groups was conducted by Friedman test and corrected by Bonferroni correction. Results:In GTV comparisons, the differences in GTV ACT, GTV VCT, GTV A40VM and GTV V40VM in patients without pulmonary atelectasis were not statistically significant ( χ2=1.89, P=0.595). The DSC and HD95 of GTV ACTvs. GTV A40VM were 0.96 and 3.00, and the DSC and HD95 of GTV VCTvs. GTV V40VM were 0.94 and 2.93, respectively. The differences in GTV ACT, GTV A40VM, GTV A40VMID, GTV VCT, GTV V40VM, GTV V40VMID and GTV PET-CT in patients complicated with pulmonary atelectasis were statistically significant (all P<0.001). Pairwise comparison of Bonferroni correction showed that there was no statistically significant difference in GTV A40VM, GTV A40VMID, GTV V40VM, GTV V40VMID and GTV PET-CT (all P=1.000), all of which were significantly smaller than those of GTV ACT and GTV VCT (both P=0.001), and there was no statistically significant difference between GTV ACT and GTV VCT (both P=1.000). Based on the tumor extent shown by PET-CT (standardized uptake value =2.5), DSC were slightly higher and HD95 were slightly lower than conventional enhanced CT of GTV A40VM, GTV V40VM, GTV A40VMID, GTV V40VMIDvs. GTV PET-CT, respectively. When the arterial phase sequences were compared with PET-CT, pairwise comparison of Bonferroni correction showed that the DSC and HD95 of GTV A40VMvs. GTV PET-CT and GTV ACTvs. GTV PET-CT were statistically significant (both P<0.01), and the differences were not statistically significant among the remaining groups (all P>0.05). When intravenous phase sequences were compared with PET-CT, pairwise comparison of Bonferroni correction revealed that the DSC and HD95 of GTV V40VMIDvs. GTV PET-CT and GTV VCTvs. GTV PET-CT were statistically significant (both P<0.01), and the differences were not statistically significant among the remaining groups (all P>0.05). Conclusions:The use of 40 keV VMI-ID fusion images to outline the target area of the primary tumor lesions is closer to that of PET-CT, which provides a novel option for the precise outlining of the target area of clinical radiotherapy.

ObjectiveTo explore the effect of exposure to atmospheric particulate matters on the outpatient visits of respiratory disorders in Jiaxing City，Zhejiang Province. MethodsDaily air pollutant monitoring data，meteorological data and outpatient visits of respiratory disorders in Jiaxing City from 2019 to 2021 were collected．A generalized additive model was applied to evaluate the effect and laggeel effect of the concentrations of atmospheric particulates for outpatient visits of respiratory disorders after adjusting for secular trend， day-of-the-week effect， holiday effect， and meteorological variables. ResultsThe daily average concentrations of PM_2.5， PM₁₀， O₃ and NO₂ exceeded the standard， and the proportion of days exceeding the standard was 3.4%， 1.3%， 11.0% and 0.8%， respectively. Every 10 μg·m^-3 increase in PM_2.5 concentration showed the strongest effects on the daily outpatient visits of respiratory disorders， adult and childhood respiratory disorders all on lag07 with ER（95%CI） being 2.29%（1.35%‒3.24%）， 2.31% （1.39%‒3.23%） and 2.65 % （1.36%‒3.96%）， respectively. The maximum ER of outpatient visits for respiratory disorders in children was higher than that in adults. Every 10 μg·m^-3 increase in PM₁₀ concentration showed the strongest effects on the daily outpatient visits of respiratory disorders on lag07， adult respiratory disorders on lag06 and childhood respiratory disorders on lag07 with ER（95%CI） being 1.42% （0.87%‒1.96%）， 1.49%（0.99%‒1.99%） and 1.61% （0.87%‒2.36%）， respectively. The results of double-pollutant model showed that the effect of atmospheric particulate reduced after O₃ was introduced into the model. ConclusionThere are a short-term effect and a laggeel effect of atmospheric particulate on the outpatient visits of respiratory disorders. It is necessary to strengthen the health protection of the respiratory system of the population， especially the children.

Objective:To explore the eye movement characteristics of social cognitive processing in schizophrenia patients across different stages and its association with clinical symptoms.Methods:Fifteen patients with first-episode schizophrenia, forty-six patients with chronic inpatient schizophrenia, thirty-six patients with psychiatric clinical high-risk syndrome, and twenty-six healthy controls were recorded using eye tracking technology when viewing social interaction pictures. Covariance analysis and partial correlation analysis were conducted by SPSS17.0.Results:When watching the pictures of person communication, there were statistically significant differences in the average fixation duration of the four groups of subjects ((294.6±36.7)ms in control group, (280.0±54.0)ms in clinical high-risk group, (268.5±34.9)ms in first-episode group, and (315.7±75.7) ms in chronic group, respectively, F=3.18, P=0.027). When viewing the pictures of no person landscape, the average saccade amplitude of the four groups of subjects was significantly different (5.3±1.1) ° in control group, (4.7±1.1) ° in clinical high-risk group, (5.2±1.0) ° in first-episode group, and (4.4±1.2) ° in chronic group, respectively, F=3.37, P=0.021). The average fixation duration of chronic patients when observing person communication pictures was positively correlated with the total score of PANSS (partial correlation coefficient=0.313, P=0.039). The average fixation duration of chronic patients when observing the other two types of pictures were also positively correlated with the total score of PANSS (partial correlation coefficient=0.320, P=0.034, no person communication pictures; partial correlation coefficient=0.372, P=0.013, no person landscape pictures) . The average fixation duration of chronic patients when observing pictures of no person landscape was positively correlated with the PANSS positive symptom score (partial correlation coefficient=0.321, P=0.034). The average fixation duration of chronic patients when observing any type of picture was positively correlated with the PANSS general symptom score (person communication pictures: partial correlation coefficient=0.385, P=0.010; no person communication pictures: partial correlation coefficient=0.409, P=0.006; no person landscape pictures: partial correlation coefficient=0.465, P=0.001). In the first-episode patient, the average saccade amplitude when observing no person communication pictures was positively correlated with the PANSS positive symptom score (partial correlation coefficient=0.555, P=0.049). In the clinical high-risk group, the average saccade amplitude when observing person communication pictures was negatively correlated with the SOPS positive symptom score (partial correlation coefficient=-0.373, P=0.030). Conclusion:There are statistically significant differences of eye movement characteristics of social cognitive processing in patients with schizophrenia across different clinical stages.The average saccade amplitude is more sensitive than the average fixation duration in predicting the severity of symptoms in clinical high-risk patients.

OBJECTIVETo explore the effects of electroacupuncture (EA) combined with motor imagery therapy on motor function and activity of daily living in patients with hemiplegic cerebral infarction.

METHODSNinety patients with hemiplegic cerebral infarction were randomly divided into a rehabilitation group, an EA group and a comprehensive group, 30 patients in each one. The patients in the rehabilitation group were treated with regular care, medication and rehabilitation training; based on the rehabilitation group, the patients in the EA group were treated mainly with electroacupuncture at Baihui (GV 20), Dingnieqianxiexian (MS 6), Dingniehouxiexian (MS 7), Jianyu (LI 15), Waiguan (TE 5), Fengshi (GB 31) and Sanyinjiao (SP 6); with the arrival of. EA device was connected for 30 min. The patients in the comprehensive group were treated with EA as the EA group and motor imagery therapy, 20 min per treatment. The treatment was given once a day, five treatments per week, and totally 4-week treatment was performed. The Barthel index and Brunnstrom score before and after treatment were observed in the three groups.

RESULTSThree cases did not finish the trial and finally 87 cases were included into analysis, including 30 cases in the rehabilitation group, 29 cases in the EA group and 28 cases in the comprehensive group. Compared before treatment, the Barthel index and Brunnstrom score were significantly improved after treatment in the three groups (all<0.01); after treatment, the Barthel index in the EA group and comprehensive group was significantly higher than that in the rehabilitation group (both<0.01); the lower extremity score of Brunnstrom score in the comprehensive group was better than those in the EA group and rehabilitation group (both<0.05).

CONCLUSIONEA combined with motor imagery therapy and rehabilitation can significantly improve the motor function and activity of daily living in patients with hemiplegic cerebral infarction, which is superior to rehabilitation alone or EA alone.