OBJECTIVE: To analyze the correlation between variants in the start codon of the α-globin gene and phenotypes of thalassemia, so as to provide a basis for the diagnosis and prevention of α-thalassemia. METHODS: A retrospective study was conducted on 7 patients diagnosed by Yangjiang People's Hospital and Guangzhou Hybribio Co. Ltd., from June 2019 to October 2022. Routine blood tests and hemoglobin electrophoresis were carried out. Potential variants were identified through polymerase chain reaction (PCR) combined with Reverse dot blotting (RDB), Gap-PCR, and Sanger sequencing. This study has been approved by the Medical Ethics Committee of People's Hospital of Yangjiang (Ethics No: 20240001). RESULTS: For the 7 patients, results of blood routine test of one case was unknown, and that of another was normal. The remaining 5 cases had presented with microcytic hypochromic anemia. The results of hemoglobin electrophoresis showed that one case had normal Hb A and slightly lower Hb A2, whilst another had significantly decreased Hb A and Hb A2, in addition with the appearance of a Hb H band. The content of Hb Bart's in four neonates was ≥ 0.4%. The remaining one case had no result. Genetic testing has identified 4 rare start codon mutations, namely HBA2: c.2delT, HBA2: c.1A>G, HBA2: c.1A>T, and HBA1: c.2T>C. Among these, Patient 1 had harbored compound heterozygous variants of HBA2: c.427T>C (Hb CS) and HBA2: c.2delT. Patient 4 had harbored compound heterozygous variants of HBA2: c.1A>G and Southeast Asian type deletion. CONCLUSION Heterozygotes with HBA start codon variants usually present as silent or mild thalassemia, and the symptoms of anemia may deteriorate when combined with other α-thalassemia variant. The HBA2: c.1A>T start codon variant was unreported previously in China. The detection of start codon variants has helped to clarify the causes of anemia, genetic counseling, and guidance for reproduction.
Humans ; Phenotype ; Codon, Initiator/genetics* ; Female ; Male ; Retrospective Studies ; alpha-Globins/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobin A/genetics* ; Adult ; Mutation

Objective:To investigate the diagnosis of dual-energy X-ray absorptiometry(DXA)for osteoporosis(OP)of postmenopausal patients with rheumatoid arthritis(RA)in Qinghai region and the risk factors of them.Methods:A total of 200 postmenopausal female RA patients who admitted to Qinghai Hospital of Traditional Chinese Medicine from May 2022 to April 2023 were selected.All patients were tested for bone mineral density(BMD)after admission,and lumbar spines L1-L4,whole lumbar,large trochanter,Ward's triangle area,whole body and whole forearm were measured by DXA.According to the results of BMD test,patients whose BMD T values of all body parts-2.5 SD were less or equal to-2.5 were included in the OP group(121 cases),and patients whose BMD T value of all body parts were larger than-2.5 SD were included in the non-OP group(79 cases).The BMD T value of different body parts between two groups of RA patients were compared and analyzed.The area under curve(AUC)of receiver operating characteristic(ROC)curve was used to analyze the diagnostic efficiency of BMD T value for OP.The logistic regression method was adopted to analyze the risk factors that postmenopausal RA patients of Qinghai region occurred OP.Results:The BMD T values of L1,L2,L3,L4,whole lumbar,large trochanter,Ward's triangular area,whole body and whole forearm of OP group were obviously lower than those of the non-OP group.In analysis of ROC curve,the sensitivities of BMD T values of L1,L2,L3,L4,whole lumbar,large trochanter,Ward's triangle area,whole body and forearm were respectively 96.20%,95.22%,90.16%,96.03%,92.01%,89.36%,99.26%,90.02% and 96.03% in diagnosing OP,and the specificities of them were respectively 81.00%,82.19%,85.22%,83.06%,83.06%,90.22%,80.06%,86.23%,83.09%,and the AUC values of them were respectively 0.908,0.905,0.896,0.906,0.903,0.879,0.918,0.901 and 0.906.The results of the logistic-regression analysis showed that advanced age,long disease course,rheumatic activity scores of 28 joints,erythrocyte sedimentation rate and Calcium supplementation were the risk factors of occurring OP in postmenopausal RA patients in Qinghai region.Conclusion:The DXA method that detects BMD of RA patients who occur OP can be used as gold standard to assess OP,and there are many risk factors that affect the occurrence of OP in postmenopausal RA patients of Qinghai region.The clinical work should combine with relative factors to formulate reasonable measure so as to reduce the incidence of OP.

Objective Explore the factors affecting rural residents'willingness to use telemedicine in China,and put forward relevant suggestions to promote the development of telemedicine in rural areas.Methods A research model was built based on Technology Acceptance Model,data were collected through using a questionnaire survey and analyze by structural equation modelling for validation.Results The awareness rate of telemedicine among rural residents was 62.0%and the usage rate was 10.0%,which was low.Perceived usefulness,perceived ease of use,social participation,social support,and facilitators positively influence rural residents'willingness to use telemedicine(P＜0.05),while perceived risk and social connection have no effect on the willingness of rural residents to use telemedicine(P＞0.05).Conclusion Promote the construction of telemedicine system infrastructure to comprehensively enhance the level of rural medical and health services;improve telemedicine laws and regulations to promote the policy guarantee of the three medical institutions;give full play to the role of social capital to improve the information literacy of rural residents in the use of telemedicine.

Objective:To characterize the biomechanics of distal dynamic locking and distal static locking of proximal femur bionic nails (PFBN) in fixation of intertrochanteric fractures by a finite element analysis.Methods:The CT image data from the hip to the upper tibia from an adult male volunteer were used to establish a three-dimensional model of the femur by Mimics 20.0 and Geomagic 2013 which was processed further into a model of Evans type I intertrochanteric fracture by software NX 12.0. With reference to the internal fixation parameters commonly used, 4 models of PFBN fixation were established: distal single transverse nail dynamic locking (model A), single oblique nail dynamic locking (model B), single nail static locking (model C) and double nail dynamic locking (model D). Abaqus 6.14 software was used to load and analyze the internal fixation stresses and displacements of fracture ends.Results:Under a 2100N loading, the peak stress was located upon the main nail in the 4 models. The smallest peak stress upon the main nail was in Model D (161.9 MPa), decreased by 15.9% compared with model A (192.5 MPa), by 15.6% compared with model B (191.9 MPa), and by 0.9% compared with model C (163.3 MPa). The peak stress upon the fixation screw was the largest in model A (95.3 MPa), the smallest in model B (91.5 MPa), and 91.5 MPa and 92.2 MPa in models C and D, respectively. The overall displacements of the implants, in a descending order, were 10.14 mm in model A, 10.10 mm in model B, 10.09 mm in model C, and 10.05 mm in model D. Similarly, the displacements of fracture ends were 0.125 mm in model A, 0.121 mm in model B, 0.110 mm in model C, and 0.098 mm in model D.Conclusion:Compared with dynamic locking, distal static locking of PFBN provides a better mechanical stability and reduces stress concentration upon internal fixation.

Objective:To explore the hematological phenotype and genotypic characteristics of five Chinese individuals with a rare thalassemia mutation HBB: c. 93-21G>A. Methods:A retrospective study was carried out on five individuals identified by the People′s Hospital of Yangjiang and Guangzhou Hybribio Co., Ltd. from May 2018 to September 2022. Routine blood test and hemoglobin electrophoresis were performed, and the genotypes of five subjects were determined by using PCR combined with reverse dot blotting (RDB), nested PCR, Gap-PCR and Sanger sequencing. This study was approved by Medical Ethics Cornmittee of the People′s Hospital of Yangjiang (Ethics No. 20240001).Results:Among the five individuals, hematological data of one was unavailable, and the remaining four had presented with microcytosis and hypochromia. The results of hemoglobin electrophoresis indicated that all of them had a HbA 2 level of ≥4.7%. Genetic analysis showed that one case had harbored compound heterozygous mutations of ααα anti3.7 triplet and HBB: c. 93-21G>A, one had compound heterozygous mutations of -α 3.7 and HBB: c. 93-21G>A, whilst the remaining three were heterozygous for the HBB: c. 93-21G>A mutation. Conclusion:The hematological phenotype of β-thalassemia carriers ( HBB: c. 93-21G>A) is similar to that of other β + thalassemia heterozygotes with mild β-thalassemia characteristics.

Objective:To analyze the correlation between elastic modulus of shear wave elastography of periurethral prostatic tissue and serum prostate-specific antigen(PSA)in patients with benign prostatic hyperplasia(BPH).Methods:A total of 200 BPH patients who received treatment in the Second People's Hospital of Hefei from October 2019 to October 2022 were collected by convenient sampling method,and all patients were subjected to ultrasound shear wave elastography and serum PSA examination,and the elastic modulus of periurethral prostate tissue was measured by shear wave elastography,and the mean of them was obtained.They were divided into mild group(96 cases),moderate group(59 cases)and severe group(45 cases)according to the results of the International Prostate Symptom Score(IPSS).At the same time,the related information of 30 cases without prostatic lesions who were selected from the prostate examination population were included into healthy control groups.The correlation between the elastic modulus of periurethral prostatic tissue and serum PSA was analyzed and compared.Results:Statistical analysis showed that there was significant difference in the elastic modulus value of prostate among various groups(F=190.914,P<0.05).Compared with the healthy control group,the elastic modulus values of prostate of the mild,moderate and severe groups were significantly increased,and the differences were significant(t=6.572,14.172,18.441,P<0.05),respectively.Compared with the mild group,the elastic modulus values of prostate of the moderate and severe groups were significantly increased(t=7.853,18.274,P<0.05),respectively.Compared with the moderate group,the elasticity modulus value of prostate of the severe group significantly increased(t=11.371,P<0.05).There was significant difference in serum PSA among BPH patients with different degrees(F=126.143,P<0.05).Compared with the healthy control group,the serum PSA values of the mild,moderate and severe groups significantly increased(t=10.694,14.368,13.804,P<0.001),respectively.Compared with the mild group,the serum PSA values of the moderate and severe group significantly increased(t=6.401,13.047,P<0.05),respectively.Compared with the moderate group,the serum PSA value of the patients in the severe group significantly increased(t=7.293,P<0.001).There was no significant correlation between serum PSA and the elastic modulus of periurethral tissues in the healthy control group(P>0.05).There were significant positive correlation between serum PSA and the elastic modulus of periurethral tissues in the mild,moderate and severe groups(r=0.314,0.296,0.354,P<0.05),respectively.Conclusion:Both serum PSA level and elastic modulus value of periurethral prostate tissue of BPH patients significantly increase,and there is a positive correlation between them.

Objective:To explore the effectiveness of varenicline on smoking cessation.Methods:In this cross-sectional study, a total of 318 tobacco-dependent adults with complete medical record were included from January 2018 to June 2023 in the First Affiliated Hospital of Soochow University. All the patients received smoking cessation advices and exhaled carbon monoxide (eCO) detection on initial visit and 3 months later. According to whether they received varenicline, the participants were divided into smoking cessation advices (SCA) group (126 cases) and varenicline (VAR) group (192 cases). The follow-up period was≥3 months. Quit smoking for at least 3 months was regarded as successful smoking-cessation.Results:eCO levels on enrollment and 3 months later for SCA group and VAR group were (11.5±4.8) vs (11.8±4.3) ppm and (7.8±3.6) vs (7.3±4.3) ppm ( P=0.550, 0.239). eCO levels of SCA group and VAR group decreased significantly 3 months later ( t=7.293, 11.920, both P<0.001). Participants in VAR group had significantly higher odds of abstinence than those in SCA group (40.6% vs 28.6%, χ2=4.806, P=0.028). After quit smoking successfully, eCO levels decreased from (15.5±5.6) and (13.9±5.1) ppm to (3.6±2.4) and (3.5±2.5) ppm ( t=17.580, 27.180, both P<0.001) for SCA group and VAR group respectively. Conclusion:Varenicline usage can increase the abstinence rates of tobacco-dependent adults.

Comprehensive experiments course is a bridge for higher vocational students to integrate theoretical knowledge with production practice. The article introduces that our biological pharmacy department is committed to the principles of "promotion of teaching, learning and construction through skills competition so as to integrate education and training". By taking penicillin fermentation process as an example, reform has been made in several aspects including teaching objectives, teaching content and teaching methods. We integrate the practical operation of fermentation equipment with virtual simulation software to develop a two-way interactive course. By reducing the subjective dependence, the quantitative management and evaluation of fermentation process parameter control were put into place, which efficiently integrated the skills competition with practical teaching. Improved teaching performance has been achieved over recent years, which may facilitate the reform and practice of similar courses based on skills competition.
Humans ; Clinical Competence ; Learning ; Students ; Technology ; Biological Products

Objective: To investigate the associations between the single nucleotide polymorphism(SNP) in vestigial like family member 4(VGLL4) gene and Helicobacter pylori(H. pylori) infection. Methods: The blood samples of 450 normal physical examiners were collected , and the samples were divided into H. pylori negative group( n =220) and H. pylori positive group(n = 230) using enzyme⁃linked immunosorbent assay(ELISA) . SNP rs1803489 ,rs7617620 , and rs13078528 in VGLL4 gene were genotyped using polymerase chain reaction ( PCR) Ⅳrestriction fragment length polymorphism ( RFLP) technology. Results: SNP rs1803489 , rs7617620 , and rs13078528 in VGLL4 gene were not associated with H. pylori infection in the Han population in Baotou , Inner Mongolia. Conclusion SNP rs1803489 , rs7617620 , and rs13078528 in VGLL4 gene may not play a major role in H. pylori infection in Baotou Han population.

Objective To investigate the structure of deoxyhypusine synthase(DHS)in Saccharomyces cerevisiae(Dys1)and unravel the molecular mechanism of hypusine lysine modification,providing a theoretical basis for the treatment of highly proliferative diseases such as human immunodeficiency virus type 1(HIV-1)replication.Meth-ods Using the E.coli BL21 expression system,an in vitro expression vector was constructed and used to express the protein of Dys1.Dys1 protein samples were purified using methods such as affinity chromatography and molecu-lar sieving to achieve protein purification and isolation.The crystals of Dys1 were obtained using the crystallized so-lution containing 6％Polyethylene Glycol(PEG)8000,0.1 mol/L N-2-hydroxyethylpiperazine-N-ethane-sulphoni-cacid(Hepes)pH 6.5,and 8％ethylene glycol.The crystal structure of Dys1 was resolved at a resolution of 2.8 ? using X-ray crystallography.The structural analysis was performed with CCP4i and Coot software.Results The overall structure of Dys1 was a tetramer,each monomer containing a catalytic site and a cofactor NAD+binding site.The core region of the monomer adopted a Rossmann fold.The amino acid residues involved in the substrate binding sites were highly conserved among eukaryotes.Conclusion The crystal structure of Dys1 is being resolved for the first time.It reveals the binding mode of the cofactor NAD+to the enzyme and confirms that the enzyme functions as a tetramer,with the N-terminus serving as an essential modulator for its catalytic activity.