Objective:To review the diagnosis, treatment and quality of life of patients with primary immune thrombocytopenia (ITP) in seven medical centers in some areas of Hubei Province.Methods:A retrospective analysis was conducted on age, disease course, symptoms, diagnosis, and treatment status (including testing items, drug selection, and adverse reactions) of patients with ITP in seven medical centers in Hubei Province from January 2020 to December 2022. An online survey was conducted on the quality of life of patients using the ITP Patient Assessment Questionnaire (ITP-PAQ) .Results:Among the 1033 patients, those with newly diagnosed, persistent, and chronic ITP accounted for 39.8%, 19.1%, and 41.1%, respectively. Most patients exhibit varying degrees of bleeding. Regarding treatment, corticosteroids and thrombopoietin drugs are the most commonly chosen treatment drugs for ITP, and the adverse reactions to treatment mainly include diarrhea, liver dysfunction, and thrombosis. The ITP-PAQ survey of 125 patients revealed that ITP significantly impairs their life quality. Patients with ITP scored significantly lower in fatigue, sleep, fear, exercise, work, and social aspects.Conclusion:A relatively high proportion of patients with ITP progressed to the chronic phase. Corticosteroids and thrombopoietin drugs are the two main treatment drugs for ITP patients. The quality of life of patients with ITP is significantly reduced in multiple dimensions.

Objective:To review the diagnosis, treatment and quality of life of patients with primary immune thrombocytopenia (ITP) in seven medical centers in some areas of Hubei Province.Methods:A retrospective analysis was conducted on age, disease course, symptoms, diagnosis, and treatment status (including testing items, drug selection, and adverse reactions) of patients with ITP in seven medical centers in Hubei Province from January 2020 to December 2022. An online survey was conducted on the quality of life of patients using the ITP Patient Assessment Questionnaire (ITP-PAQ) .Results:Among the 1033 patients, those with newly diagnosed, persistent, and chronic ITP accounted for 39.8%, 19.1%, and 41.1%, respectively. Most patients exhibit varying degrees of bleeding. Regarding treatment, corticosteroids and thrombopoietin drugs are the most commonly chosen treatment drugs for ITP, and the adverse reactions to treatment mainly include diarrhea, liver dysfunction, and thrombosis. The ITP-PAQ survey of 125 patients revealed that ITP significantly impairs their life quality. Patients with ITP scored significantly lower in fatigue, sleep, fear, exercise, work, and social aspects.Conclusion:A relatively high proportion of patients with ITP progressed to the chronic phase. Corticosteroids and thrombopoietin drugs are the two main treatment drugs for ITP patients. The quality of life of patients with ITP is significantly reduced in multiple dimensions.

Objective:To investigate the correlation between the annual professional proficiency test results and the theoretical examination score of completion assessment in standardized residency training, as well as the value of the annual professional proficiency test results in predicting whether a resident passes the theoretical examination of completion assessment.Methods:The residents who participated in the annual professional proficiency test of residency training in Affiliated Hospital 2 of Nantong University in 2019-2021 and the completion assessment of residency training in 2020-2022 were selected as subjects, and related data were collected, including sex, education background, personnel type, training specialty, the results of annual professional proficiency test, and the theoretical examination score of completion assessment. According to whether the resident passed the theoretical examination of completion assessment, they were divided into passed group and failed group. SPSS 19.0 was used to perform the chi-square test, the independent samples t-test, and the binary logistic regression analysis; the Pearson correlation coefficient was used for correlation analysis; the sensitivity analysis was represented by ROC curve. Results:Compared with the residents who passed the theoretical examination of completion assessment, the residents who did not pass the examination had a significant reduction in the proportion of the residents from our hospital and a significant increase in the proportion of the residents commissioned by foreign institutions ( χ 2=7.00, P=0.008). The passed group had a significantly higher national percentile of annual professional proficiency test score than the failed group (43.46%±26.61% vs. 23.40%±18.71%, t=6.02, P<0.001). The national percentile of annual professional proficiency test score was positively correlated with the theoretical examination score of completion assessment ( r=0.43, P<0.05). The source of residents commissioned by foreign institutions and the low percentile of annual professional proficiency test score were independent risk factors for failing the theoretical examination of completion assessment ( P=0.020 and P<0.001). The national percentile of annual professional proficiency test score had an area under the ROC curve of 0.73 (95% CI: 0.65-0.80) in predicting the outcome of theoretical examination and had a certain predictive value with a cut-off value of 15.1%. Conclusions:In addition to strengthening homogenization and professional base management for residency training, it is necessary to make full use of the results of annual professional proficiency test in standardized residency training and timely check the professional knowledge of the residents whose a national percentile of <15.1%, so as to effectively improve the pass rate of theoretical examination and the quality of training.

Objective:To carry out cytogenetic and molecular genetic analysis for two infertile patients carrying rare small supernumerary marker chromosomes (sSMC).Methods:Two infertile patients who received reproductive and genetic counseling at CITIC Xiangya Reproductive and Genetic Hospital on October 31, 2018 and May 10, 2021, respectively were selected as the study subjects. The origin of sSMCs was determined by conventional G banding, fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq). Microdissection combined with high-throughput whole genome sequencing (MicroSeq) was carried out to determine the fragment size and genomic information of their sSMCs. Results:For patient 1, G-banded karyotyping and FISH revealed that he has a karyotype of mos47, XY, del(16)(p10p12), + mar[65]/46, XY, del(16)(p10p12)[6]/48, XY, del(16)(p10p12), + 2mar[3].ish mar(Tel 16p-, Tel 16q-, CEP 16-, WCP 16+ ). CNV analysis has yielded a result of arr[GRCh37]16p12.1p11.2(24999364_33597595)×1[0.25]. MicroSeq revealed that his sSMC has contained the region of chromosome 16 between 24979733 and 34023115 (GRCh37). For patient 2, karyotyping and reverse FISH revealed that she has a karyotype of mos 47, XX, + mar[37]/46, XX[23].rev ish CEN5, and CNV analysis has yielded a result of seq[GRCh37]dup(5)(p12q11.2)chr5: g(45120001_56000000)dup[0.8]. MicroSeq results revealed that her sSMC has contained the region of chromosome 5 between 45132364 and 55967870(GRCh37). After genetic counseling, both couples had opted in vitro fertilization (IVF) treatment and preimplantation genetic testing (PGT). Conclusion:For individuals harboring sSMCs, it is vital to delineate the origin and structural characteristics of the sSMCs for their genetic counseling and reproductive guidance. Preimplantation genetic testing after microdissection combined with high-throughput whole genome sequencing (MicroSeq-PGT) can provide an alternative treatment for carrier couples with a high genetic risk.

Objective:To construct a recombinant plasmid pET30a-leucine-rich repeat (LRR) containing 15 (LRRC15) of Taenia solium, prokaryotically express and purify the LRRC15 recombinant protein, and prepare a rabbit polyclonal antibody. Methods:The LRRC15 protein encoding gene of Taenia solium was obtained by whole gene synthesis; it was cloned into pET30a vector, and the recombinant plasmid pET30a-LRRC15 was constructed and identified by double-enzyme PCR; the recombinant plasmid was transformed into competent cells of Escherichia coli BL21 (DE3), and the recombinant protein LRRC15 was induced to express by isopropyl-beta-D-thiogalactopyranoside (IPTG), the expression product was analyzed and identified by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE); the LRRC15 recombinant protein was purified by Ni-IDA affinity columns, the purified recombinant protein was analyzed and identified by SDS-PAGE, and the specificity of the purified recombinant protein was identified by Western blot (WB); the New Zealand rabbits were immunized with purified LRRC15 recombinant protein to prepare polyclonal antibodies against LRRC15, and the potency of the purified polyclonal antibody was determined by indirect enzyme-linked immunosorbent assay (ELISA). Results:After PCR identification, a band with a length of 1 506 bp was amplified, which was consistent with the LRRC15 gene; after SDS-PAGE and WB identification, the LRRC15 target protein with a relative molecular mass ( Mr) of about 55.36 × 10 3 was obtained; after immunizing New Zealand rabbits with purified LRRC15 recombinant protein, a polyclonal antibody against LRRC15 was obtained, and its potency was 1∶1 587 200. Conclusion:The recombinant plasmid pET30a-LRRC15 is successfully constructed, the LRRC15 recombinant protein of Taenia solium is prepared, and a high purity and high potency rabbit anti polyclonal antibody against LRRC15 recombinant protein is obtained.

Objective:To survey the cognition of general practice residency training and the willingness of teaching among specialists.Methods:A questionnaire survey was conducted among 221 specialists from 24 departments in Nantong First People's Hospital from May 2021 to June 2021 to investigate the their cognition of general practice residency training program and the teaching willingness.Results:Total 221 questionnaires were distributed and 185 valid ones were retrieved with a response rate of 83.70%. The results showed that 49 specialists (26.49%) well knew the national general practice training policy, 70 (37.84%) knew the most, 52 (28.11%) knew basically, 11 (5.95%) knew little, and 3 (1.62%) did not know at all. Meanwhile, 44 specialists (23.78%) well knew the hospital incentive policies about general practice education, 62 (33.51%) knew the most, 57 (30.81%) knew basically, 18 (9.73%) knew little, and 4 (2.16%) did not know at all. Whether they holding the teaching certificate of general practice was significantly associated with the cognition of national general practice training policy (χ2=14.28, P=0.003) and with their knowledge of residency training program (χ2=16.79, P=0.001), but not associated with knowing the hospital-level incentive policy (χ2=8.18, P=0.075). A total of 170 (91.89%) participants were willing to be clinical teachers of general practice. The reasons for the willingness of teaching were as following: learning more from the teaching in 161 participants (94.71%), expanding sources of patients from rural areas in 102 (60.00%), facilitating promotion in 77 (45.29%), and others in 30 (17.60%). Among 62 specialists holding teaching certificate, 60 (96.77%) were willing to teach general practice residents; while among 123 specialists without teaching certificate, 110 (89.43%) were willing to teach (χ2=4.92, P=0.027). In all hospital incentive policies, promotion of professional titles was most attractive one (82, 44.32%), followed by performance appraisal (63, 34.05%), priority for in-service training (25, 13.51%), and appraisal for excellence award (15, 8.11%). Conclusions:Strengthening trainings for general practice the faculty is helpful to improve their cognition of the general practice residency training programs. And rational hospital incentive policies can enhance the willingness of specialists to teach general practice residency.

Major public health emergencies have challenged the public health emergency response capacity of rural areas. Through the investigation and research on the epidemic prevention and control situation in a rural area in Hubei, 93 households were randomly sampled by questionnaire survey method, and 10 households were interviewed by the semi-structured interview method. The data were analyzed by cross-analysis and descriptive analysis. The results showed that the main body involved in epidemic prevention and control in rural areas was single, and the epidemic prevention and control measures mostly adopted simple measures such as closed management. It was difficult to implement epidemic prevention and control measures in the village. The village doctors assumed basic medical and health service functions but were not highly motivated. Sanitation facilities were lacking, but the social comprehensive publicity of epidemic prevention and control safety education and infectious disease prevention knowledge was effective. In the post-epidemic era, it is necessary to increase the public health and health awareness of rural residents through strengthen publicity, improve and optimize the rural public health system, build a rural public health community, and enhance village doctors’ professional quality, so as to promote the emergency response capacity of rural public health.

Currently, immune checkpoint inhibitors (ICPIs) are the most compelling approach in cancer therapy, which expanded the boundary of treatment of cancer to immune-based therapy. Compared to traditional chemotherapy, immunotherapy significantly pro-longs survival while conferring fewer side effects. Because of the new mechanism of the ICPIs with good clinical efficacy, they have been approved for sale in a short time. However, the mechanism of immune-related adverse events have yet fully understood for a standardized management strategy. With further development of immunotherapy and possible combination therapy, adverse events of ICPIs gain more attention. Here, we focuses on the reported adverse events and the treatment experience to provide theoretical ba-sis for their treatment.

OBJECTIVETo screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation.

METHODSPeripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis.

RESULTSA heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic.

CONCLUSIONIdentification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Blepharophimosis ; diagnosis ; genetics ; China ; Female ; Forkhead Box Protein L2 ; Forkhead Transcription Factors ; genetics ; Genetic Association Studies ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Skin Abnormalities ; diagnosis ; genetics ; Urogenital Abnormalities ; diagnosis ; genetics ; Young Adult

OBJECTIVETo analyze the karyotypes and SRD5A2 gene mutations in 25 patients with sporadic or familial hypospadias.

METHODSThe patients included 10 adults and 15 children, whose chromosomes were analyzed by G-banded karyotyping, and the SRD5A2 genes were sequenced.

RESULTSTwo patients were found to have an abnormal karyotype, while eight have carried compound heterozygous mutations of the SRD5A2 gene, which included 5 genotypes formed by 6 types of mutations, i.e., p.G203S/p.R227Q, p.R227Q/p.R246Q, p.Q6X/p.Q71X, p.L20P/p.G203S, and p.Q71X/p.R227Q. Mutations of the SRD5A2 gene were present in 32% (8/25) of all patients, 35% (8/23) in those with a normal karyotype, and 44.4% (8/18) in those with proximal type hypospadia. Bioinformatic analysis, literature review and pedigree analysis confirmed that all such mutations are pathogenic.

CONCLUSIONChromosomal anomalies and mutations of the SRD5A2 gene are the main cause of hypospadias. Sequencing of the SRD5A2 gene may explain the etiology of nearly half of the patients with proximal type of hypospadas but a normal karyotype, which can facilitate genetic consulting.

3-Oxo-5-alpha-Steroid 4-Dehydrogenase ; genetics ; metabolism ; Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; Female ; Humans ; Hypospadias ; enzymology ; genetics ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Membrane Proteins ; genetics ; metabolism ; Mutation ; Young Adult