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Objective:To explore the clinical characteristics and genetics of a pedigree with Stargardt disease, and investigate the pathogenicity of ABCA4 (ATP binding cassette subfamily A member 4) gene mutations in Stargardt disease.Methods:The proband was admitted to the Second People′s Hospital of Jinan in May 2021 due to diminution of vision. The proband was diagnosed with Stargardt disease according to the clinical diagnostic criteria of Stargardt disease. Detailed ophthalmological examinations was also performed on family members of the proband. Genomic DNA were extracted from the proband and the family members, and the whole exon sequencing was performed to find pathogenic gene mutations. The hazard of mutations was analyzed by polyphen-2, SIFT and MutationTaster websites. Sanger sequencing was used to verify the mutations. Conserved analysis of homologous species and 3-dimensional (3D) molecular model of the protein were used to analyze the pathogenicity.Results:Ophthalmological examinations showed reduced binocular vision, macular atrophy and "bull′s eye sign" in the proband and there was no abnormal signs and symptoms among the family members. Through whole exon sequencing analysis and Sanger sequencing verification, the compound heterozygous mutations (c.215G>A and c.6563T>C) of ABCA4 gene were co-segregated with this disease in this family. SIFT, Polyphen-2 and MutationTaster predicted that these two mutations were pathogenic. Conservative analysis and 3D molecular model of protein showed that mutations could cause changes in protein structure and affect protein function.Conclusion:The compound heterozygous mutations (C.215G>A and C.6563T>C) of ABCA4 gene are the pathogenic mutations of Stargardt disease in this pedigree.
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Objective To evaluate the rat model of type 2 diabetes mellitus ( T2DM) associated with depres-sion by body weight, fasting blood glucose, manifestations, and open field test.Methods The T2DM rat model was induced by high fat diet and low dose of STZ injection, and in addition, the T2DM rats were made restraint stress for 21 days.32 Wistar rats were randomly divided into three groups: normal group ( group N) , T2DM group ( group T)and T2 DM with depression group ( group T +D) , with 8 rats in each group.After the model was established, to measure the body weight, fasting blood glucose at day 0, 7, 14, and 21, and observe the gross manifestations, drink-ing and diet, feces, urine, and mental state, and test the rat depression by open field test.Results After establish-ment of the T+D rat model, the rats in group T+D showed some symptoms, including messy dark and gloomy hair, slow movement, increasing drinking, diet, feces and urine and mental fatigue.At day 0, 7, 14, and 21, compared with the group N, the body weight of the group T and group T+D were decreased, showing a significant difference ( P0.05).Compared with the group N, the movement speed in 5 minutes in the group T was significantly slower than that in the group T , with a significant difference ( 5.1 ±0.4 cm/s vs.2.9 ±0.6 cm/s, P<0.05 ) , and even more slower than that in the group T +D, with a significant differ-ence (5.1 ±0.4 cm/s vs.2.4 ±0.5 cm/s, P<0.01) .Conclusions A rat model of type 2 diabetes mellitus as-sociated with depression has been successfully established by high fat diet and injection of low dose streptozotocin in combination with restraint stress for 21 days.This rat model is useful for further relevant studies.
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Xiang-thinking is the main way of thinking in the form of traditional Chinese culture, which included Xiang and thinking. In viscera theory of traditional Chinese medicine(TCM) formation, Xiang-thinking has run through and played a role in pushing forward on the formation of manifestation theories. Among five internal organs, take liver as an example. The formation of the liver manifestation is through the description of the liver and intuitive form and structure of the object, which were on the basis of the extract of abstract thinking, and the summarization on rules of the process. In this paper, the formation of liver manifestation theory was taken as an example to discuss the application of Xiang-thinking in formation of liver manifestation theory.
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Objective To investigate the influence of acute hypervolemic hemodilution (AHH) on pharmacodaynamics of cisatracurium in patients undergoing general anesthesia. Methods Sixty ASA Ⅰ or Ⅱ patients aged 18-60 yr scheduled for major abdominal surgery under general anesthesia were randomly allocated into 2 groups (n = 30 each): control group and AHH group. Each group was further divided into 3 subgroups according to the initial dose of cisatracurium (30, 40, 50 μg/kg) . The radial artery and right internal jugular vein were cannulated. BP, HR, CVP, SpO_2, P_(ET) CO_2 and body temperature were continuously monitored. The response of left adductor pollicis muscle to TOF stimulation of ulna nerve was monitored using TOF- Watch~R SX (Organon). Both groups received 10 ml/kg multiple electrolyte solution (plasma-Lyte A) during induction of anesthesia. In group AHH 15 ml/kg 6% hydroxyethyl starch (HES) 130/0.4 solution was infused via internal jugular vein over 30-40 min in addition to plasma-Lyte A. Five minutes after completion of plasma-Lyte A or HES, cisatracurium 30, 40 or SO fig/kg was injected iv in the respective subgroups. After the maximal T_1 block was achieved, the second dose was given to reach a total dose of 100 μg/kg. The onset time, duration of clinical action, total duration of action and recovery index were recorded. The doses for 50% , 90% and 95% T_1 depression (ED_(50), ED_(90), ED_(95)) were calculated by Probit method. Results The ED_(50), ED_(90), ED_(95) of cisatracurium were significantly higher in AHH group than in control group. The onset time of cisatracurium was significantly longer but clinical and total duration of action was significantly shorter in AHH group than in control group. There was no significant difference in recovery index between the two groups. Conclusion AHH can decrease the potency of cisatracurium.