Objective:To investigate the clinical characteristics of a family with maturity-onset diabetes of the young type 3(MODY3) and assess its association with the novel HNF1A-c.47T>A variant.Methods:A genetic pedigree of the MODY3 family was constructed, and clinical data were collected. Whole-exome sequencing combined with Sanger sequencing was used, followed for familial co-segregation analysis. Bioinformatics tools, including multiple sequence alignment–based conservation analysis and protein structural prediction, were conducted to validate the association between the novel HNF1A-c.47T>A variant and MODY3.Results:Seven MODY3 patients were diagnosed in this family, all harboring the HNF1A-c.47T>A heterozygous variant. AlphaFold2 protein structure prediction indicated that the HNF1A-c.47T>A variant altered the conformation of the first pair of α-helices within the protein dimerization domain.Conclusion:Based on co-segregation analysis, sequence conservation assessment, protein structure prediction, and classification based on American College of Medical Genetics and Genomics(ACMG) Guidelines, the HNF1A-c.47T>A variant was determined to be pathogenic for MODY3. This study reports this novel pathogenic variant, expanding the mutational spectrum of MODY3. By revealing its disruptive effect on the protein dimerization domain, the findings provide a potential molecular basis for the diagnosis and management of patients carrying similar variants.

Objective:To investigate the clinical characteristics of a family with maturity-onset diabetes of the young type 3(MODY3) and assess its association with the novel HNF1A-c.47T>A variant.Methods:A genetic pedigree of the MODY3 family was constructed, and clinical data were collected. Whole-exome sequencing combined with Sanger sequencing was used, followed for familial co-segregation analysis. Bioinformatics tools, including multiple sequence alignment–based conservation analysis and protein structural prediction, were conducted to validate the association between the novel HNF1A-c.47T>A variant and MODY3.Results:Seven MODY3 patients were diagnosed in this family, all harboring the HNF1A-c.47T>A heterozygous variant. AlphaFold2 protein structure prediction indicated that the HNF1A-c.47T>A variant altered the conformation of the first pair of α-helices within the protein dimerization domain.Conclusion:Based on co-segregation analysis, sequence conservation assessment, protein structure prediction, and classification based on American College of Medical Genetics and Genomics(ACMG) Guidelines, the HNF1A-c.47T>A variant was determined to be pathogenic for MODY3. This study reports this novel pathogenic variant, expanding the mutational spectrum of MODY3. By revealing its disruptive effect on the protein dimerization domain, the findings provide a potential molecular basis for the diagnosis and management of patients carrying similar variants.

Objective To observe value of thin slice CT multiple signs combined with multiplanar reformation(MPR)for diagnosing tracheobronchial tuberculosis(TBTB).Methods Data of 234 TBTB patients who underwent chest thin slice CT scanning were retrospectively analyzed.MPR was performed,the direct signs and indirect signs of TBTB were observed.The diagnostic efficacy of axial plain CT images(direct observation)and of MPR combined with the former(combined observation)were compared.Results The sensitivity,specificity,positive predictive value,negative predictive value and accuracy of direct observation was 38.88％(201/517),98.13％(1 789/1 823),85.53％(201/235),84.99％(1 789/2 105)and 85.04％(1 990/2 340),respectively,of combined observation was 91.10％(471/517),98.85％(1 802/1 823),95.54％(471/493),97.51％(1 802/1 848)and 97.14％(2 273/2 340),respectively.Significant differences of sensitivity,positive predictive value,negative predictive value and accuracy were found(all P＜0.001),whereas no significant difference of specificity was found between 2 methods(P＞0.05).Conclusion Thin slice CT multiple signs combined with MPR could be used to effectively diagnose TBTB.

Objective: To observe the effect of acupuncture and family exercise on the pain and quality of life in the patients withcervical spondylotic radiculopathy. Methods: A total of 104 patients with cervical spondylotic radiculopathy were randomly divided into 4 groups: the control group was treated with cervical traction therapy, the exercise group were with traction therapy and family exercise, the Acupuncture group were with traction therapy and acupuncture, and the combined group were with traction therapy, family exercise and acupuncture. The short-form of McGill Pain Questionnaire (SF-MPQ), Northwick Park Neck Pain Questionnaire (NPQ) and WHO quality of life (WHOQOL-BREF) were compared between two groups. Results: After treatment, the SF-MPQ were (5.8 ± 1.0, 7.1 ± 1.1, 7.9 ± 2.1 vs. 9.3 ± 1.1, F=44.897) and NPQ (12.9 ± 2.0, 15.5 ± 1.6, 15.9 ± 3.4 vs. 17.8 ± 1.9, F=69.730) in Comb. G, Acu. G, Exe. G were significantly lower than those in the Ctrl G. (P<0.01). The scores of physiology, psychology, society and environment of WHOQOL in the Comb. G, Acu. G and Exe. G after treatment were significantly higher than that in the Ctrl G. (F=154.216, 190.314, 65.227, 344.897, all Ps<0.001). Conclusions Four groups’ interventions are effective for cervical spondylotic radiculopathy. The combined interventions have more positive impact on pain management and quality of life in patients.

Objective To explore the effect of bilateral hand function training on the hand function of stroke survivors.Methods Thirty-one patients with unilateral hand dysfunction after stroke were randomly divided into an experimental group of 16 and a control group of 15.Both groups were given 60 minutes of hand function training of their affected hands daily,five days a week for 4 weeks.The experimental group was additionally provided with 40 minutes of bilateral hand training on the basis of the aforementioned intervention.Before the treatment and after the 4 weeks,integrated surface electromyography (iEMG) signals were recorded from both hands' flexor and extensor muscles.Both groups were also assessed using the Fugl-Meyer motor assessment for the upper extremities (FMA-UE).Results After the treatment,the average iEMG of the flexor and extensor muscles during flexion and extension were significantly better than before the treatment in both groups.There was no significant difference between the two groups in their average iEMGs before the treatment,but afterward significant differences were observed in all the iEMG measurements.After the treatment the average total FMA-UE score of the experimental group was significantly higher than that of the control group.Conclusion Bilateral hand function training is significantly more effective than unilateral training in promoting the recovery of flexor and extensor muscle function after a stroke.

Objective: To determine the optimal dose of dexmedetomidine required to prevent nausea and vomiting when used for postoperative analgesia after gynecological laparoscopic surgery. Methods: A total of 135 patients, aged 18-60 yr, weighing 52-80 kg, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, scheduled for elective gynecological laparoscopic surgery, were divided into 3 groups (n=45 each) using a random number table method: control group (group C), dexmedetomidine 1 μg/kg group (group D₁) and dexmedetomidine 2 μg/kg group (group D₂). Immediately after anesthesia induction, dexmedetomidine 0.4 μg·kg^-1·h^-1 was injected intravenously until 30 min before the end of surgery in all the patients.When the patient was fully awake at the end of surgery, the tracheal tube was removed, and patients were sent to postanesthesia care unit and received patient-controlled intravenous analgesia (PCIA). The PCIA solution contained sufentanil 1.2 μg/kg and dezocine 20 mg in 100 ml of 0.9% normal saline.The PCIA pump was set up with a 0.5 ml bolus dose, a 15 min lockout interval and background infusion at a rate of 2 ml/h.Dexmedetomidine 1 and 2 μg/kg were added to PCIA solution in group D₁ and group D₂, respectively.The occurrence of nausea and vomiting was recorded in postanesthesia care unit stay period (P₁) and in 0-12 h (P₂), 12-24 h (P₃), 24-36 h (P₄) and 36-48 h (P₅) periods after patients returned to the ward.Ramsay sedation score was recorded at 12, 24, 36 and 48 h after patients returned to the ward.When visual analogue scale score >3, patients were told to press PCIA.Patients were followed up for 48 h after surgery, and patients′ satisfaction, pressing times of PCIA and occurrence of pruritus, respiratory depression, bradycardia and dizziness were recorded. Results: Compared with group C, the incidence of nausea was significantly decreased in P₂ period, and the pressing times of PCIA were reduced in P_{2, 3} period in D₁ and D₂ groups (P<0.05). There was no significant difference in Ramsay sedation score at each time point, patients′ satisfaction and incidence of bradycardia among the three groups (P>0.05). No patients developed pruritus, respiratory depression or dizziness in the three groups. Conclusion The optimal dose of dexmedetomidine required to prevent nausea and vomiting is 1 μg/kg when used for postoperative analgesia after gynecological laparoscopic surgery.

Objective To evaluate the mid-term and long-term effects of early endovascular emboli-zation in treating ruptured posterior communicating artery aneurysm. Methods Early endovascular embolization therapy was carried out in 36 patients with ruptured posterior communicating artery aneurysm (36 aneurysms in total), and the effects of embolization therapy were evaluated by using Raymond grading method. The unified imaging review program was formulated, and the mid-term and long-term effects were evaluated at half, 1, 2, 3 and 5 years after the treatment. Results The technical success rate was 100% in 36 patients (36 aneurysms in total). Raymond grading evaluation showed that gradeⅠwas seen in 32 patients, gradeⅡ in 2 patients, and grade Ⅲ in 2 patients. Recurrence of aneurysm was found in 5 patients (13.89%) at half (n=1), 2 (n=1), 3 (n=1) and 5 years (n=2) after the treatment. Re-rupture of the recurrent aneurysm was seen in one patient (2.78%). No death occurred during the following-up period. Conclusion Early endovascular embolization for ruptured posterior communicating artery aneurysm can effectively improve the prognosis of subarachnoid hemorrhage, and regular imaging examination can promptly detect the recurrence of aneurysm. Effective interventions are helpful for preventing deterioration and rupture of aneurysm.

Scientific innovation teams are key weight indicators and promoters in science and technology of a hospital.The First Affiliated Hospital of Anhui Medical University(the Hospital)draws funding support from the Natural Science Foundation,to empower its innovative teams with programs and funding.These efforts have effectively propelled its innovations spearheaded by the dermatology team to give rise to outstanding outcomes and power teams.The application for talents support from NSF,the project approval for the hospital funding is affected to some extent.With the help from NSF and the innovative teams,scientific teams of the hospital have harvested a general upgrading and accelerated development of disciplines,elevating the scientific level of hospital in general.

Objective To investigate the efficacy of escitalopram combined with psychoanalysis in the treatment of refractory depression. Methods A total of 63 patients were randomly divided into escitalopram group ( n = 32) and escitalopram combined with psychoanalysis group( n = 31 ). All patients were evaluated with Hamilton depression Rating Scale(HAMD). Results After treatment,the scores of HAMD in two groups were both significantly lower than those before treatment. In the 8th ( ( HAMD ( 17.35 ± 2.98 ) ), 12th ( ( HAMD (9. 26 ±3.46) )weekend of treatment, the scores of HAMD in study group were significanlly lower than those in control group(8 th:21.97 ± 3.26; 12 th: 15.28 ± 3. 18 ). There were no significant differences in side effects between study group and control group. Conclusion Escitalopram angumented with psychoanalysis takes effects better than escitalopram single and doesn't increase side effects in the treatment of refractory depression.

Objective To investigate the ecological structure of intestinal fungal flora of patients with chronic hepatitis B infection. Methods HBV-liver cirrhosis patients, chronic hepatitis B patients, HBV carriers, and healthy volunteers were selected as research subjects to extract the total DNA from stool of each subject, 18S rRNA genes of intestinal fungi was cloned and sequence was analyzed for the construction of 18S rDNA clone libraries and phylogenetic tree, diversity and structural characteristics of intestinal fungal flora in each group was then analyzed. Results A total of 29 operational taxonomic units (OTUs) of intestinal fungal flora in all research subjects was acquired. All positive clones belonged to three fungal taxa: Zygomycetes (3.4%) , Ascomycetes (82. 8%) and Basidiomycetes (13. 8%) . The dominant fungal community was Candida spp. , uncultured fungus and Saccharomyces spp. , which accounted for 29. 2% , 15. 9%, 15.0% respectively. The OTUs which belonged to HBV-liver cirrhosis patients, chronic hepatitis B patients, HBV carriers, and healthy volunteers was 20,16,12,14 respectively. Conclusion There is an abundant fungal flora in the human intestine. Ecological structure of intestinal fungal flora appears to be various in patients with chronic hepatitis B infection, which indicate the close relationship between the alteration of ecological structure of fungal flora and the stage of chronic hepatitis B infection.