Objective To assess of iron overload in thalassaemia minor patients and provide basis for clinical intervention.Methods A total of 458 thalassaemia minor patients confirmed by genetic tests were divided into two groups(α-thalassaemia group and β-thalassaemia group),and 120 healthy individuals were recruited into control group.Serum iron and serum ferritin were measured,correlations between serum ferritin and age,genotypes,hemoglobin were evaluated.Results There was no significant difference in serum iron among the three groups(P>0.05),but the differences of serum ferritin was statistically significant(P<0.05),and serum ferritin in the β-thalassemia group was higher than that of the α-thalassemia group(P<0.05).Serum ferritin also had significant differences between different age groups(P<0.05),and which was higher in young patients(≤20) and older patients.Besides that,in patients older than 20 years,the level of ferritin was positively correlated with age.Moreover,we found serum ferritin had statistically differences between genotypes in α-thalassaemia patients(P=0.006),and which had poor negatively correlation with hemoglobin in β-thalassaemia patients(r=-0.252,P=0.001).Conclusion Serum ferritin was a sensitive indicator to assess iron overload in thalassaemia minor patients,and which was positively correlated with age in thalassaemia patients 20 or more than 20 years old.Our research also indicates different iron overload traits between α-thalassaemia patients and β-thalassaemia patients.

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 .

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.