Schizophrenia (SZ) stands as a severe psychiatric disorder. This study applied diffusion tensor imaging (DTI) data in conjunction with graph neural networks to distinguish SZ patients from normal controls (NCs) and showcases the superior performance of a graph neural network integrating combined fractional anisotropy and fiber number brain network features, achieving an accuracy of 73.79% in distinguishing SZ patients from NCs. Beyond mere discrimination, our study delved deeper into the advantages of utilizing white matter brain network features for identifying SZ patients through interpretable model analysis and gene expression analysis. These analyses uncovered intricate interrelationships between brain imaging markers and genetic biomarkers, providing novel insights into the neuropathological basis of SZ. In summary, our findings underscore the potential of graph neural networks applied to multimodal DTI data for enhancing SZ detection through an integrated analysis of neuroimaging and genetic features.
Humans ; Schizophrenia/pathology* ; Diffusion Tensor Imaging/methods* ; Male ; Female ; Adult ; Brain/metabolism* ; Young Adult ; Middle Aged ; White Matter/pathology* ; Gene Expression ; Nerve Net/diagnostic imaging* ; Graph Neural Networks

The rich club, as a community of highly interconnected nodes, serves as the topological center of the network. However, the similarities and differences in how the rich club supports functional integration and segregation in the brain across different species remain unknown. In this study, we first detected and validated the rich club in the structural networks of mouse, monkey, and human brains using neuronal tracing or diffusion magnetic resonance imaging data. Further, we assessed the role of rich clubs in functional integration, segregation, and balance using quantitative metrics. Our results indicate that the presence of a rich club facilitates whole-brain functional integration in all three species, with the functional networks of higher species exhibiting greater integration. These findings are expected to help to understand the relationship between brain structure and function from the perspective of brain evolution.
Animals ; Humans ; Brain/diagnostic imaging* ; Mice ; Male ; Nerve Net/diagnostic imaging* ; Macaca ; Female ; Neural Pathways/diagnostic imaging* ; Magnetic Resonance Imaging ; Biological Evolution ; Adult ; Diffusion Magnetic Resonance Imaging ; Brain Mapping ; Species Specificity ; Mice, Inbred C57BL

Objective:To identify the pathogenic gene and inheritance pattern in a pedigree of congenital iris coloboma with congenital cataract.Methods:The method of pedigree investigation was adopted.A pedigree of congenital iris coloboma with congenital cataract was collected by Yunnan Disabled Rehabilitation Center and the 2nd Afliated Hospital of Kunming Medical University in February 2020.Ophthalmic examinations were carried out on the female proband, her parents, her children and her husband, and the clinical diagnosis was made.Genomic DNA was extracted from peripheral blood samples collected from the family members.The suspected pathogenic gene in the proband and her husband was screened by whole exome sequencing and was identified by bioinformatics analysis.The amino acid conservation was analyzed by UGENE software.The impact of the mutation on protein translation was predicted using MutationTaster software.The pathogenicity of the mutation was assessed according to the American College of Medical Genetics (ACMG) Standards and Guidelines.Pathogenic gene and mutations were verified by Sanger sequencing.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of the 2nd Afliated Hospital of Kunming Medical University (No.PJ-2020-61).Written informed consent was obtained from each subject or custodian.Results:The proband showed large iris defects in both eyes with only a small amount of observable iris tissue in the periphery, lens cortical opacity and posterior capsule opacification, accompanied by nystagmus.A novel heterozygous frameshift variation c. 415dupA (p.R139fs) was located in exon 8 of PAX6 gene, and the variation was conservative across multiple species.The variation was in the highly conserved region of PAX6 gene and caused the dysfunction of PAX6 protein.The variation was graded as PVS1+ PM2+ PP1, a pathogenic variation, based on ACMG guidelines.The pedigree was consistent with co-segregation, indicating that the novel variation was pathogenic.The proband and her children were diagnosed, but her parents were phenotypically normal, in accordance with autosomal dominant inheritance. Conclusions:The novel frameshift variation c.415dupA (p.R139fs) on the exon 8 of PAX6 gene is responsible for congenital iris coloboma with congenital cataract in the pedigree.This is the first report of this novel variation in PAX6 gene.

Biomarkers ; Brain/diagnostic imaging* ; Brain Diseases/diagnostic imaging* ; Humans ; Machine Learning ; Magnetic Resonance Imaging ; Neuroimaging

Due to the impact of COVID-19, the online problem-based learning (PBL) teaching mode was first implemented based on the curriculum integration of basic medicine and clinical medicine in our university in 2020. A total of 357 eight-year program clinical medicine students from three grades participated in the online PBL courses. The students have had related skills and knowledge of integration curriculum, and the teachers have carried out sufficient analysis of learning situation, preparation of software and hardware, as well as teaching design. Teachers and students has communicated with each other smoothly and cooperated closely through the Tencent Conference software platform, therefore this teaching mode has gained better feedback among students, with higher satisfaction of courses and significantly improved students' learning enthusiasm. The curriculum integration has laid the foundation for the case design and application of online PBL teaching, while the success of online PBL teaching has also reflected the original intention of curriculum integration reform.

Due to the influence of immunosuppression, nerve injury and other comprehensive factors, the overall incidence of gastrointestinal complications after lung transplantation is relatively high, which can cause drug absorption disorder and chronic rejection. In recent years, more and more studies have been conducted on these complications. However, due to the great difference of the incidence of gastrointestinal complications among lung transplantation centers, clinicians lack of understanding of these. In this article, the general status, common types and risk factors of gastrointestinal complications after lung transplantation were reviewed, aiming to provide reference for comprehensive management of gastrointestinal complications after lung transplantation.

To introduce the repairation procedure of composite distal soft tissue defect of thumb and finger with mini toenail flap. Methods From June, 2015 to June, 2018, 7 cases with composite tissue defect at 7 distal fingers, including 5 thumbs, 1 index finger and 1 middle finger, were reconstructed with mini toenail flap transfer.The flap sizes which were raised during the operation ranged from 4.5 cm×3.0 cm-3.0 cm×1.5 cm.The donor sites were covered by toe phalanx shortening, V-Y advancement flap and local pedicle flap. Microsurgical routine treatment was made after the operation, and followed-up regularly. Results Seven flaps of 7 cases completely sur-vived without any necrosis. All the wounds at the donor sites healed well. All patients were followed-up for 6-36 months. The motive, sensor and cosmetic result were satisfied. In sensory function, the two-point discrimination dis-tance could restore to be 4-6 mm. Conclusion The mini toenail flap transfer is a reliable and suggested method.It can anatomically restored the distal digit sensor function with cosmetic contour, and regain the motive, sensory func-tion and satisfied cosmetic appearance.

OBJECTIVETo perform a retrospective cohort study in order to determine the differences in short-term curative effect of ribavirin in combination with interferon alfa (IFNa)-2a vs. pegylated (Peg)-IFNa-2a in patients with chronic hepatitis C (CHC).

METHODSOne-hundred-and-eighty-eight treatment of the CHC patients who were administered combination therapy of ribavirin with IFNa from 2010 to 2012. One-hundred-and-thirty-three of the patients received the therapy with IFNa-2a and the remaining 55 received Peg-IFNa-2a. Hepatitis C virus (HCV) load and levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) were measured at treatment weeks 4, 12, 24, and 48. Adverse reactions were recorded. Differences between the groups were assessed by statistical analysis.

RESULTSThe patients in the Peg-IFNa-2a group and the IFNa-2a group showed no significant difference in sex distribution, age, smoking habits, or drinking habits at baseline (all P more than 0.05). Both antiviral therapies significantly reduced the HCV load and levels of ALT and AST (baseline levels vs. all treatment weeks examined, P less than 0.05); however, the reduction in the HCV load at week 4 was significantly more robust with the Peg-IFNa-2a therapy (2.96 ± 0.66) log10 IU/ ml vs. (3.47 ± 1.42)1og10 IU/ml; F =4.14, P=0.04). The Peg-IFNa-2a group also showed a significant higher rate of rapid virological response (RVR) than the IFNa-2a group (72.72% vs .57.14%; x²=4.37, P=0.04), but there were no statistically significant differences found between the two groups for early virological response rate (EVR), endpoint antiviral treatment virologic response rate (ETR), biochemical response rate, or rate of adverse reactions (all P more than 0.05).

CONCLUSIONRibavirin in combination with Peg-IFNa-2a produces a better RVR than in combination with IFNa-2a .Yet, the EVR, ETR, biochemical response rate, and rate of adverse reactions is similar for the two forms of IFNa-2a. Further studies are required to determine the potential superiority of Peg-IFNa-2a for a long-term curative effect.

Adolescent ; Adult ; Aged ; Antiviral Agents ; therapeutic use ; Child ; Child, Preschool ; Drug Therapy, Combination ; Female ; Hepatitis C, Chronic ; drug therapy ; Humans ; Infant ; Infant, Newborn ; Interferon-alpha ; therapeutic use ; Male ; Middle Aged ; Polyethylene Glycols ; therapeutic use ; Recombinant Proteins ; therapeutic use ; Retrospective Studies ; Ribavirin ; therapeutic use ; Treatment Outcome ; Young Adult

Objective To investigate the outcome between endoscopically assisted and routine anterior transposition of the ulnar nerve for treatment of cubital tunnel syndrome.Methods From Februray 2008 to June 2010, forty-four patients with cubital tunnel syndrome were treated with routine anterior subcutaneous transposition (routine group,28 cases) and endoscopically assisted anterior subcutaneous transposition (endoscope group,16 cases).The operate time,drug administration,scar and postoperative hospital stay were compared.The patients were followed 1-12 month postoperatively,postoperative time back to work and function of ulner nerve were recorded.Results The results of endoscope group were as follows: operative time was (67.20 ± 19.69)min; postoperative scar length was (1.5％ ± 0.58) cm; rate of administration of anodyne was 6.3％; postoperative hospital stay was (2.4％ ± 1.42) days; postoperative time back to work,(14.6 ± 4.69)days; the results of open surgery group were as follows:operative time (62.8％ ± 11.06) min; postoperative scar length was (8.7％ ± 1.42) cm; rate of administration of anodyne was 42.8％; postoperative hospital stay was (5.7％ ± 2.53) days; postoperative time back to work was (29.40 ± 8.75) days; all differences of the results were significant between two groups (P ＜ 0.05).According to function of ulner nerve scoring system,one year postoperatively, excellent or good results were 82.14％ in routine group and 81.25％ in endoscope group,no significant difference between two groups (P ＞ 0.05). Conclusion Compared with routine anterior transposition of the ulnar nerve,endoscopically assisted anterior transposition has the following advantages: smaller incision and less tissue damage,less postoperative pain and sooner returning to work.And similar outcome was achieved from the two group.

Objective To observe the clinical role of Qiliqiangxin capsules uniting conventional western medicine interfering with chronic heart failure(CHF).Methods 61 cases of CHF were randomly recruited into a control group(31 cases)and a treatment group(30 cases).The control group was treated with conventional anti-hean failure treatment,and the treatment group was added Qiliqiangxin capsules on the treatment of the control group.After having been treated for 2 courses (fonr weeks),such indexes as clinical efficacy,body weigbt,urine volume,6 min walking distance(6MWD),electrocardiogram,and cardiac ultrasound were measured for both groups.Results The overall efficiency of cardiac function was 93.33%for the treatment group and 74.19%for the control group.There was significant difierence between the two groups(χ~2=4.07985,P＜0.05).The enhance rate of left ventricular ejection fraction(LVEF)was(16±4)%in the treatment group as compared to(11±3)%in the control group,also showing statistical difierence between the two groups(t=5.509,P＜0.001).Conclusion Qiliqiangxin capsules combined with conventional western medicine could effectively improve the cardiac function,LVEE clinical symptoms,and quality of life in the patients with ehronic heart failure.