Objective To investigate the subtle changes of the brain function at olfactory region of MD patients with olfactory dysfunction at resting state, through the application of fMRI-BOLD. Methods This study enrolled 28 MD patients with olfactory dysfunction(Case group) who had been treated from February 2016 to March 2017, and 23 healthy volunteers (Control group) with matching gender, age and education background to the Case group.All subjects were examined by Symptoms Checklists-90(SCL-90), Hamilton Depression Rating Scale-24 (HAMD-24), 70% isopropyl alcohol inhalation test, and fMRI at resting state. The two independent samples t test was used to compare the two groups' educational years, psychological scales and olfactory test scores.Regional homogeneity(ReHo)analysis was conducted for the whole brain of subjects.The ReHo values at some brain regions of both groups were compared through two independent sample t-test.The ReHo values,extracted from the case group's brain regions with differences, were run through by Pearson correlation analysis.Results There was a negative correlation between the HAMD-24 score(r=-0.413,P=0.029)and the severity of olfactory decline in the MD patients with olfactory dysfunction.In addition,it was found by fMRI that Case group,as compared to Control group,demonstrate declined ReHo values at left orbital frontal gyrus(cluster=80,t=3.27),bilateral cingulate gyrus(right cluster=204,t=4.34,left cluster=204,t=3.63),bilateral middle frontal gyrus(right cluster=56,t=3.67,left cluster=28, t=3.50),rightinsular(cluster=40,t=3.53),bilateral amygdala(right cluster=76,t=3.66,left cluster=86,t=2.93),but increased ReHo values at bilateral inferior frontal gyrus(right cluster=44,t=3.62,left cluster=33,t=3.25), right thalamus(cluster=34, t=3.21)and bilateral gyri rectus(right cluster=45,t=3.78,left cluster=24,t=3.01)(AlphaSim correction,P<0.001).Moreover,there was a positive correlation between the ReHo value at left orbital frontal gyrus and the olfactory test distance(r=0.628,P<0.05).But the ReHo value at left orbital frontal gyruswas negatively correlated with HAMD-24 (r=-0.414,P=0.029). There was no correlation with other clinical data.Conclusion The abnormal brain functional activities of left orbital frontal gyrus at resting state might be related to the olfactory dysfunction of patients with depression.

OBJECTIVE: To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene. METHODS: The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant. RESULTS: The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function. CONCLUSION The KIF1A gene may be a risk gene for ASD.
Autism Spectrum Disorder/genetics* ; Child ; Female ; Humans ; Kinesin/genetics* ; Mutation ; Mutation, Missense ; Pregnancy ; Protein Domains ; Whole Exome Sequencing

OBJECTIVE: To carry out genetic testing for a patient with 45,X/46,XY mosaicism and autism spectrum disorder (ASD). METHODS: Peripheral blood samples of the patient and his parents were collected for the extraction of genomic DNA. Trio-based whole exome sequencing and Sanger sequencing were carried out thereafter. RESULTS: The proband and his father were found to harbor a heterozygous c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene. In addition, the proband was also found to harbor a de novo c.268C>T (p.Arg90Trp) missense variant of the MTRR gene. Based on guidelines of the American College of Medical Genetics and Genomics (ACMG), the c.4781G>A (p.Arg1594Gln) variant of the CACNA1I gene was predicted to be pathogenic (PVS1, PM1, PM2, PP3), while the c.268C>T (p.Arg90Trp) variant of the MTRR gene was predicted to be of uncertain significance. CONCLUSION Variants of the CACNA1I and MTRR genes, together with the chromosomal mosaicism, may have predisposed to the susceptibility to the ASD in this patient.
Autism Spectrum Disorder/genetics* ; Genomics ; Heterozygote ; Humans ; Mosaicism ; Whole Exome Sequencing

Objective:To investigate the nutritional status of rectal cancer patients with permanent enterostomy.Methods:From January 2019 to May 2021, the convenient sampling was used to select 180 rectal cancer patients with permanent enterostomy who were reexamined in the Outpatient Department of the First Affiliated Hospital with Nanjing Medical University as the research objects. The general information questionnaire, Patient Generated-Subjective Global Assessment (PG-SGA) and Chinese version of Ostomates' Adjustment Inventory-20 (OAI-20) were used for investigation. Pearson correlation analysis was used to explore the correlation between nutritional status and stoma adaptation level. A total of 180 questionnaires were distributed and 173 valid questionnaires were recovered, with an effective recovery rate of 96.11%.Results:The total score of PG-SGA and OAI-20 were respectively (7.85±3.23) and (41.89±2.48) among 173 rectal cancer patients with permanent enterostomy and 138 patients were malnourished and 35 patients were well nourished. There were statistically significant differences in age, stoma complications, history of chemotherapy and stoma adaptation between the malnutrition group and the well-nutrition group ( P<0.05) . Pearson correlation analysis showed that the total score of OAI-20 was negatively correlated with the total score of PG-SGA in rectal cancer patients with permanent enterostomy ( r=-0.723, P<0.01) . Conclusions:The nutritional status of rectal cancer patients with permanent enterostomy is poor, and the nutritional status is related to the level of stoma adaptation.