Objective To understand the gene carrying rate ,gene mutation types and distribution characteristics of thalassemia in the northeast area of Chongqing .Methods 28 633 specimens collected from the patients and individuals with physical examina‐tion in our hospital from January to December 2013 were performed the RBC parameters detection and hemoglobin electrophoresis screening .The specimens with phenotype positive were definitely verified the thalassemia type by using Gap‐PCR and reverse dot blot(RDB) .Results Among 28 633 specimens ,1 358 specimens were finally diagnosed as thalassemia with the thalassemia carrying rate of 4 .74% ,including 589 cases(2 .06% ) of α‐thalassemia and 741 cases (2 .59% ) of β‐thalassemia cases .Among the α‐thalasse‐mia genotypes ,‐αα/‐‐SEA genotype(1 .38% ) was most common ,the next was ‐αα/‐α3 .7 genotype (0 .37% ) and αα/‐α4 .2 genotype (0 .20% ) .Among the β‐thalassemia genotypes ,CD41‐42 genotype (1 .27% ) had the highest constituent ratio ,followed by IVS‐2‐654 genotype(1 .27% ) and CD17 genotype(0 .30% ) .28 cases were found to be the double heterozygote with α‐thalassemia and β‐thalassemia .Conclusion The northeast area of Chongqing is a region with the high incidence rate of thalassemia and complicated heredity .Therefore this research provides the reference information for the prevention of thalassemia ,genetic counseling and prena‐tal diagnosis .

A fast,reliable,and cost-effective liquid chromatography-tandem mass spectrometry method was established to determine the effects of the traditional Chinese medicine employed to treat coronavirus disease 2019,namely,Lianhua Qingwen granules,Huoxiang Zhengqi capsules,Jinhua Qinggan granules,Shufeng Jiedu capsules,and Angong Niuhuang pills,on the pharmacokinetics of lopinavir/ritonavir in rats.Blood samples were prepared using the protein precipitation method and atazanavir was selected as the internal standard(IS).Separation was performed on an Agilent ZORBAX eclipse plus C18(2.1 mm x 50 mm,1.8 μm)column using acetonitrile and water containing 0.1％formic acid as the mobile phase for gradient elution.The flow rate was 0.4 mL/min and the injection volume was 2 μL Agilent Jet Stream electrospray ionization was used for mass spectrometry detection under positive ion multiple reaction monitoring mode at a transition of m/z 629.3→447.3 for lopinavir,m/z 721.3→296.1 for rito-navir,and m/z 705.4→168.1 for the IS.The method showed good linearity in the concentration range of 25-2500 ng/mL(r=0.9981)for lopinavir and 5-500 ng/mL(r=0.9984)for ritonavir.The intra-day and inter-day precision and accuracy were both within±15％.Items,such as dilution reliability and residual effect,were also within the acceptable limits.The method was used to determine the effects of five types of traditional Chinese medicines on the pharmacokinetics of lopinavir/ritonavir in rats.The pharmaco-kinetic results showed that the half-life of ritonavir in the groups administered Lianhua Qingwen granules and Huoxiang Zhengqi capsules combined with lopinavir/ritonavir was prolonged by approx-imately 1.5-to 2-fold relative to that in the control group.Similarly,the pharmacokinetic parameters of lopinavir were altered.Overall,the results of this study offer important theoretical parameters for the effective clinical use of five types of traditional Chinese medicines combined with lopinavir/ritonavir to reduce the occurrence of clinical adverse reactions.

Objective:To compare the early therapeutic effects of internal fixation with percutaneous minimally invasive hollow nail assisted by electromagnetic navigation robot and guided by C-arm in the treatment of Tile type C pelvic fracture.Methods:A retrospective cohort study was conducted to analyze the clinical data of 32 patients with Tile type C pelvic fracture admitted to Weihai Central Hospital from January 2020 to March 2022, including 18 males and 14 females; aged 36-60 years [(44.1±3.9)years]. Among them, 17 patients were treated with internal fixation with percutaneous minimally invasive hollow nail assisted by electromagnetic navigation robot (electromagnetic navigation group), and 15 with internal fixation with percutaneous minimally invasive hollow nail guided by C-arm (C-arm guidance group). Operative time, intraoperative blood loss, sacroiliac screw placement time, pubic branch screw placement time, ambulation time and fracture healing time were compared between the two groups. Visual analog scale (VAS), Majeed function score and complication rate at 1 day, 6 months, 12 months after surgery and at the last follow-up were compared between the two groups.Results:All the patients were followed up for 12-24 months [(15.4±0.5)months]. The operative time and intraoperative blood loss in the electromagnetic navigation group were (42.0±2.5)minutes and (10.9±2.6)ml, shorter or less than (50.0±3.5)minutes and (14.9±3.1)ml in the C-arm guidance group (all P<0.01). The placement time of sacroiliac screw and pubic branch screw in the electromagnetic navigation group was (12.4±0.2)minutes and (10.1±0.3)minutes, shorter than (15.3±0.3)minutes and (13.2±0.3)minutes in the C-arm guidance group (all P<0.01). The ambulation time was (3.2±0.4)weeks in the electromagnetic navigation group, earlier than (3.5±0.4)weeks in the C-arm guidance group ( P<0.05). There was no significant difference in fracture healing time between the two groups ( P>0.05). VAS scores of the electromagnetic navigation group were (4.4±0.3)points and (1.1±0.1)points at 1 day and 6 months after surgery respectively, lower than those of the C-arm guidance group [(4.8±0.4)points and (1.2±0.3)points] ( P<0.05 or 0.01). Majeed function scores of the electromagnetic navigation group were (37.3±1.1)points and (88.5±1.4)points at 1 day and 6 months after surgery respectively, higher than those of the C-arm guidance group [(30.7±4.2)points and (82.6±1.8)points] (all P<0.01). There were no significant differences in VAS and Majeed scores at 12 months after surgery and at the last follow-up between the two groups (all P>0.05). There was no significant difference in the incidence of postoperative complications between the two groups ( P>0.05). Conclusion:Compared with C-arm guidance, electromagnetic navigation robot-assisted internal fixation with percutaneous minimally invasive hollow nail for Tile type C pelvic fracture can reduce operative time and intraoperative blood loss, shorten screw placement time and ambulation time, relieve pain and improve functional recovery at early stage.

Objective:To explore the clinical phenotype and genetic etiology of a child with Developmental epileptic encephalopathy type 104 (DEE 104).Methods:A child who had presented at the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 for recurrent seizures over 1 month was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a five-month-old male, had presented with frequent focal seizures with severe developmental retardation from infancy. Physical examination showed emaciation, microcephaly, oblique palpebral fissures, Stahl′s ears, and hypotonia in the limbs. Electroencephalogram revealed multi-focal sharp waves, slow waves and slow spinal waves. Cranial magnetic resonance imaging revealed enlargement of bilateral lateral ventricles and the third ventricle, along with widening of brain sulci, fissure and cisterna. WES revealed that he had harbored a heterozygous c. 2401C>T (p.His801Tyr) missense variant of the ATP6V0A1 gene. Sanger sequencing showed that both of his parents were of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS2+ PM2_Supporting+ PP3). The proband was diagnosed with DEE 104. Early treatment with sodium valproate has failed, but the child had become seizure free after the addition of levetiracetam and topiramate. He still had abnormal EEG discharges and severe psychomotor retardation. Combining our case and a review of literature, DEE104 is mainly caused by de novo heterozygous variants of the ATP6V0A1 gene with an autosomal dominant inheritance. The patients may show refractory epilepsy and severe global developmental delay from infancy. Conclusion:The c. 2401C>T (p.His801Tyr) variant probably underlay the DEE104 in this child.

Objective:To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.Methods:A child who was admitted to the Children′s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c. 3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP3). Conclusion:The c. 3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.

Objective To investigate the unmet needs for assistive technology for people with physical disabilities in Chengdu,and analyze the related factors. Methods From November,2023 to March,2024,the persons with physical disabilities in Chengdu were selected from Sichuan Individuation service platform,and investigated using World Health Organization rapid Assistive Tech-nology Assessment. Results A total of 558 questionnaires were set up,and 527 effective questionnaires retured.26.8%of them reported un-met needs for aids,with the highest need for mobility aids(66.0%).Lack of support(54.9%),high price(26.3%)and lack of knowledge about aids(20.3%)were the main reasons for not obtaining the aids they needed.Loss of spouse(OR=3.615),serious mobility impairment(OR＞2.926)and serious self-care impairment(OR＞2.781)were the risks of unmet needs for aids. Conclusion It is important to popularize policies and products of aids,pay attention to personal adaptation for people with different barriers,and strengthen the service system,to meet the needs of people with disabilities.

Objective To analyze the research status and predict the development trend of clinical comprehensive evaluation of drugs in China, and to provide reference for clinical comprehensive evaluation. Methods CNKI, Wanfang and VIP database were used to search the published articles of clinical comprehensive evaluation. Literature searching was set from the building time of the database to 2022, the basic information about the published articles was obtained for the evaluation of the literature quality. Bibliometrics and CiteSpace 6.1.R3 software were used to visualize the research authors, research institutions, and key words. Results After data screening, a total of 126 Chinese published articles were selected. The analysis showed that the numbers of published articles were rising continuously, and China Academy of Chinese Medical Sciences and Xie Yanming were the institute and the author with the maximum number of literatures, respectively. Conclusion The clinical comprehensive evaluation of drugs was conducted based on the clinical value of drugs, guided by the policy requirements. It is suggested that researchers should conduct the comprehensive evaluation according to the focus and requirements of government agencies, the pharmaceutical industry and the clinical applications.