Objective To investigate the status and influencing factors of quality of life among diabetes patients in Nanchang,and to explore the relationships between the quality of life and community health care demands.Methods Totally 292 diabetes patients were recruited by multi-stage sampling method from thee community health service centers in Nanchang city.They were investigated with Diabetes-specific Quality of Life Scale(DSQL) and a self-designed questionnaire of community health care demands.The results underwent analysis.Results The total score of the DSQL in Nanchang was(66.88±15.44) points,which was relatively poor.The main factors affected patients' quality of life were the complications of diabetes,diabetic macroangiopathy,diabetic foot,hypertension and patients' career.The total and the every dimension of the scores of the DSQL were positively correlated with the scores of disease nursing needs and community health care demands.Conclusions To improve diabetes patients' quality of life,community diabetic care should focus on the different affected factors of patients' quality of life and the demands of patients.

Objective To explore whether serum amyloid A (SAA) can induce the formation of neutrophil extracellular traps(NETs)in neutrophils in vitro. Methods A stable method for inducing NETs formation in vitro was established, in-cluding isolation of peripheral blood neutrophils, cell culture, and NETs formation and observation. The neutrophils were iso-lated from peripheral blood of healthy volunteers. And cells were cultured in vitro and classified into three groups:negative control (NC) group, SAA group and lipopolysaccharide (LPS) group. Following the distinct stimulation in three groups, NETs formation was observed and its percentage was calculated. The concentration of hinstone (h) 3 in supernatant was detected by ELISA. Results The purification and vitality of isolated neutrophils were both more than 95%. The nuclei of neutrophils lost their shape and spread, NETs formation was found. More NETs formation was found in SAA group than that in NC group (P < 0.05). Moreover, the concentration of h3 in supernatant was significantly higher in SAA group than that in NC group (P<0.05). Conclusion SAA can induce the formation of NETs in vitro.

OBJECTIVETo determine the genetic cause for two mentally retarded patients from a family, and to correlate their genotypes with clinical phenotypes.

METHODSRoutine G-banded karyotyping analysis was performed. Single nucleotide polymorphism (SNP) microarray analysis was used to detect microdeletions or microduplications. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of chromosomal abnormalities.

RESULTSBoth proband and his uncle showed a normal karyotype. SNP microarray analysis has identified a 1.147-Mb microdeletion at 16p13.3 (85 880-1 233 819) and a 2.948-Mb microduplication at 19q13.42-q13.43 (56 008 597-58 956 816). FISH analysis confirmed that the patient has inherited a derivative chromosome 16 from his father. The proband presented with mental retardation, reduced speech, and facial dysmorphism (hypertelorism, down-slanting palpebral fissure, low nasal bridge and wide gap between front teeth). His uncle presented with a milder phenotype with mental retardation.

CONCLUSIONBoth the proband and his uncle have carried a chromosome microdeletion at 16p and microduplication at 19q, which were originated from their fathers carrying a balanced t(16;19) translocation. Combined SNP microarray analysis and FISH assay are useful for the detection the copy number variations and delineation of potential structural changes, which may help with evaluation of recurrence risk for this family.

Adult ; Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 19 ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; genetics ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Translocation, Genetic

Ethical review runs through the whole process of drug clinical trials, and is a critical step to ensure the rights and interests of subjects. This paper analyzed and discussed the role and positioning of ethical review in new drug clinical trials, cleared the principles of ethical review, identified the responsibilities of ethical review, and clarified the authority of ethical review approval documents. The ethical review should primarily focus on the ethics of the clinical trials, not replace other professional institutions to review the clinical trials’ legality and scientific nature. Ethical approval is only one of the necessary conditions for conducting clinical trials, not the only factor. It is recommended to strengthen the publicity and popularization of scientific and technological ethics awareness, improve the clinical trial approval mechanism, and optimize the phrasing of ethical review approval documents. It is warranted to further optimize the quality of ethical review, improve the construction of ethical review system, ultimately achieve the unity of promoting innovation and preventing risks, so as to effectively realize the benign interaction between high-quality development of scientific and technological innovation and high-level safety.

Objective:To investigate the clinical effect of anterolateral thigh perforator flap (ALTPF) combined with transfer of fascia lata in reconstruction of complex tissue defects of hand and foot.Methods:From July 2021 to October 2023, 9 patients with complex tissue defects of hand and foot were treated with ALTPF combined with fascia lata in the Department of Orthopaedic Microsurgical Repair and Reconstruction of Fuyang People's Hospital Affiliated to Anhui Medical University. There were 2 males and 7 females with an average age of 28.1 (range, 4-65) years old. Three patients had extensor tendon defects in 6 digits of dorsal hands, 5 had extensor tendon defect in 10 toes of dorsal foot, 1 had a defect of anterior tibial tendon and 1 had Achilles tendon defect in posterior ankles. The sizes of soft tissue defect ranged from 8.0 cm×6.0 cm to 15.0 cm×10.0 cm, and the lengths of tendon defect ranged from 6.0 to 13.0 cm. Preoperative Doppler ultrasound was used to locate the distribution of perforating branches in the anterolateral thigh region. According to the characteristics of wound, ALTPFs and fascia lata were designed and harvested. Fascia lata with an appropriate size of 1.5 cm×8.0 cm-4.5 cm×15.0 cm were taken to bridge the defects of the tendon and the Achilles tendon. The wounds were reconstructed with flaps sized 9.0 cm×6.5 cm-18.0 cm×7.5 cm. Nine fascia lata donor sites and 8 flap donor sites were sutured directly. One donor site was treated with a skin graft of ipsilateral ilioinguinal region. The survival and complications of the flaps and donor sites were observed through outpatient follow-up visits, WeChat reviews and home visits, etc. The hand function was assessed according to the Evaluation Standard of Upper Limb Functional of Hand Surgery of Chinese Medical Association, and the foot and ankle function was assessed according to the Mazur score standard of joint range of motion and motor function.Results:All patients were included in follow-up for 4-24 (mean, 13.4) months with complete clinical data being collected. All 9 ALTPFs survived and healed primarily. A linear scar left in donor sites in 8 patients, and mild lamellar scar at skin graft in 1 patient. Texture and colour of the flaps were similar to the surrounding tissue without secondary flap thinning surgery. Combined with postoperative rehabilitation training, satisfactory function recoveries were achieved. Hand function of 3 patients were evaluated according to Evaluation Standard of Upper Limb Functional of Hand Surgery of Chinese Medical Association, 2 patients were excellent and 1 was good. Ankle and foot functions in 6 patients were evaluated according to the range of motion of ankle and foot and Mazur score standard for motor function, 4 patients were excellent and 2 were good.Conclusion:ALTPF combined with fascia lata transfer can reconstruct the complex tissue defects of hand and foot. Of which, 1 donor site can meet the requirements of 2 types of tissues reconstruction at the same time, and with minimal damage to the donor site as well as an precise reconstruction of the recipient site. It avoids staged surgery, shortens the treatment time and reduces the cost of treatment.

Objective: To explore the pathogenic genes in a Chinese family affected by nonsyndromic tooth agenesis so as to study the pathogenesis of oligodontia. Methods : Hospital ethical approval and informed consent of the patients and family members were obtained. Clinical data of the proband and close family members were collected, peripheral venous blood was collected, and DNA was extracted. Gene sequencing was performed through whole-exome sequencing, and then the screened pathogenic genes were verified by Sanger sequencing. The three-dimensional structure of the mutant proteins was analyzed and compared with the wild-type using bioinformatics tools. Results: The two patients with congenital majority tooth loss in this family were cousins, and there were no other patients with congenital majority tooth loss in the family. Besides congenital multiple tooth loss, the two patients had no obvious hair abnormalities, finger/toe abnormalities, sweating abnormalities or other abnormal manifestations of ectodermal tissue. We found a mutant gene that in this family by carrying out gene sequencing of the patients and their close family members. A novel EDA (ectodysplasin A) missense mutation c.983C>T (p. Pro328Leu) was identified, which changed the encoded amino acid from proline (Pro) to leucine (Leu). Analysis of the mutation site showed that the site was highly conserved, and three-dimensional structure modeling also found that it changed the structure of EDA. Conclusion A novel EDA missense variant (c.983C>T, p.Pro328Leu) was first identified in a Chinese family with nonsyndromic tooth agenesis, extending the mutation spectrum of the EDA gene.

Objective To analyze the hemodynamic parameters of anomalous origin of the right coronary artery from the left coronary artery sinus (AORL) based on computational fluid dynamics (CFD), so as to make an evaluation of the disease. Methods A normal right coronary artery (RCA) case and an AORL case were selected. Two models were reconstructed in Mimics software and imported into ANSYS CFX software for hemodynamics simulation. The hemodynamics of normal RCA model and AORL model were compared. Results AORL model had a smaller volume flow (9.35 cm3/s), which might lead to insufficient blood supply downstream of the RCA; the pressure at the acute corner of AORL model (13.78 kPa) was lower than normal RCA model (14.9 kPa); the wall shear stress (WSS) of AORL model (12.83 Pa) was larger than that of normal RCA model (9.74 Pa); the total deformation of AORL model was relatively large. Conclusions The entrance velocity and pressure of AORL were lower than those of normal RCA, which might lead to ischemic symptoms. The research findings are of theoretical significance for the effective evaluation of ischemia and other diseases in clinic.

With the implementation of the national biomedical innovation strategy, new requirements for ethical review of clinical trials have been put forward, and more attention has been paid to the ethical pre-review. Based on the current situation of clinical trials and ethical review of new drugs in China, this paper discussed the concept, advantages and necessity of ethical pre-review, sorted out the problems and challenges in the implementation of ethical pre-review at this stage, and put forward the following suggestions on how to better implement ethical pre-review in clinical trials under the pharmaceutical innovation strategy: the complete definition of "ethical pre-review" should be made clearly; ethical review should be carried out on the basis of necessary reference; the scope of application of ethical pre-review should be clarified; after the ethical pre-review, the statement of the approval document should be standardized and accurate.

ObjectiveTo retrospectively analyze the epidemiological trends of birth defects in perinatal infants in Fengxian District, Shanghai from 2018 to 2022, so as to provide a scientific evidence for the formulation of related prevention and control strategies. MethodsBased on the data from the National Birth Defects Surveillance System, statistical analysis was conducted on the perinatal birth defects from monitored hospitals within the region from 2018 to 2022. ResultsFrom 2018 to 2022, a total of 20 870 perinatal infants delivered in the monitored hospitals in Fengxian District, with 472 cases with birth defects, showing a significant increase in the prevalence of birth defects (PRR=1.49, 95%CI: 1.39‒1.59). The risk of birth defects increased with maternal age, especially for advanced maternal age (PRR=1.58, 95%CI: 1.12‒2.25). Infants born to mothers with gestational diabetes had a higher prevalence of birth defects compared to those without gestational diabetes (PRR=1.99, 95%CI: 1.46‒2.70). Infants with birth defects were more likely to be born prematurely (PRR=2.07, 95%CI:1.56‒2.76). The top three types of birth defects were congenital heart disease (CHD), other anomalies of the external ear, and polydactyly. ConclusionThe prevalence of birth defects in Fengxian District monitored hospitals showed an upward trend from 2018 to 2022. Advanced maternal age and gestational diabetes were identified as risk factors for birth defects. CHD is the leading type of birth defect in Fengxian District over the five-year period. To reduce the prevalence of birth defects, it is crucial to implement comprehensive prevention and treatment measures for CHD.

Objective:To analyze the diagnostic value of cell-free plasma metagenomic next-generation sequencing (mNGS) pathogen identification for severe aplastic anemia (SAA) bloodstream infection.Methods:From February 2021 to February 2022, mNGS and conventional detection methods (blood culture, etc.) were used to detect 33 samples from 29 consecutive AA patients admitted to the Anemia Diagnosis and Treatment Center of the Hematology Hospital of the Chinese Academy of Medical Sciences to assess the diagnostic consistency of mNGS and conventional detection, as well as the impact on clinical treatment benefits and clinical accuracy.Results:①Among the 33 samples evaluated by mNGS and conventional detection methods, 25 cases (75.76%) carried potential pathogenic microorganisms. A total of 72 pathogenic microorganisms were identified from all cases, of which 65 (90.28%) were detected only by mNGS. ②All 33 cases were evaluated for diagnostic consistency, of which 2 cases (6.06%) were Composite, 18 cases (54.55%) were mNGS only, 2 cases (6.06%) were Conventional method only, 1 case (3.03%) was both common compliances (mNGS/Conventional testing) , and 10 cases (30.3%) were completely non-conforming (None) . ③All 33 cases were evaluated for clinical treatment benefit. Among them, 8 cases (24.24%) received Initiation of targeted treatment, 1 case (3.03%) received Treatment de-escalation, 13 cases (39.39%) received Confirmation, and the remaining 11 cases (33.33%) received No clinical benefit. ④ The sensitivity of 80.77%, specificity of 70.00%, positive predictive value of 63.64%, negative predictive value of 84.85%, positive likelihood ratio of 2.692, and negative likelihood ratio of 0.275 distinguished mNGS from conventional detection methods (21/12 vs 5/28, P<0.001) . Conclusion:mNGS can not only contribute to accurately diagnosing bloodstream infection in patients with aplastic anemia, but can also help to guide accurate anti-infection treatment, and the clinical accuracy is high.