Severe combined immunodeficiency (SCID) represents a group of genetically heterogeneous disorders characterized by mutations that lead to profound defects in both humoral and cellular immunity. Transplacental maternal engraftment (TME) is a frequently observed complication in SCID. While most cases of SCID with TME exhibit no substantial impact on disease progression, a subset of patients may encounter diagnostic delays or therapeutic challenges due to TME interference. Furthermore, TME may predispose these individuals to graft-versus-host disease (GVHD) prior to hematopoietic stem cell transplantation, thereby increasing diagnostic complexity and treatment risks. This review systematically examines the etiology and clinical manifestations of SCID associated with TME, analyzes its implications for disease management, and evaluates current detection methodologies. The synthesized evidence provides a theoretical foundation for future research and offers potential insights into the clinical diagnosis and management of SCID associated with TME.
Humans ; Severe Combined Immunodeficiency/diagnosis* ; Pregnancy ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Maternal-Fetal Exchange/immunology* ; Graft vs Host Disease/etiology* ; Animals ; Placenta/immunology*

Objective To investigate the feasibility of a "pericardial lining" modified Bentall procedure for the treatment of patients with aortic root aneurysm. Methods This was a retrospective study that consecutively enrolled patients treated at the Affiliated Suzhou Hospital of Nanjing Medical University, The Affiliated Traditional Chinese Medicine Hospital of Southwest Medical University, and the First People's Hospital of Guangyuan from January 2023 to February 2024. Preoperative clinical data, imaging findings (including echocardiography and CT scans of the aortic root and the entire aorta), details of coronary artery management, surgical outcomes, and postoperative follow-up results were collected. All patients underwent the "pericardial lining" modified Bentall procedure: the aortic valve was replaced, and an autologous pericardial patch was divided into three equal leaflets based on the circumference of the aortic annulus measured by a valve sizer. These leaflets were then sutured to the aortic annulus. Fenestrations were created in two of the pericardial leaflets for anastomosis with the left and right coronary ostia. The pericardial leaflets were sutured to the wall of the aortic sinuses to form an integrated structure, thereby narrowing the sinus portion. A prosthetic vascular graft was anastomosed to the proximal and distal aorta, and no aortic root-to-right atrium shunt was created. Results A total of 5 patients, aged 37 to 68 years, were included. The preoperative Society of Thoracic Surgeons (STS) risk scores ranged from 2.8% to 3.9%. The diameter of the ascending aorta was 40-73 mm, the left ventricular end-diastolic diameter (LVEDD) was 45-71 mm, and the left ventricular ejection fraction (LVEF) was 47%-64%. Intraoperatively, the aortic cross-clamp time ranged from 85 to 180 min, and the cardiopulmonary bypass time ranged from 110 to 302 min. Postoperative follow-up echocardiography revealed that the ascending aortic diameter was 27-35 mm, LVEDD was 39-57 mm, and LVEF was 43%-61%. All surgeries were completed successfully with satisfactory immediate outcomes and no intraoperative complications. During the follow-up period, there was no mortality or reoperation. Conclusion For patients with aortic root aneurysm, the "pericardial lining" modified Bentall procedure yields satisfactory preliminary results, and the technique is demonstrated to be feasible.

OBJECTIVE To explore the influence of glucuronoxylomannan(GXM)of Trichosporon asahii on Toll-like receptor(TLR)-2,TLR-4 and TLR-6 in human myeloid leukemia mononuclear cell(THP-1)and analyze the molecular mechanisms.METHODS The THP-1 cells were randomly divided into the blank control group(without any treatment after the culture of induced and differentiated THP-1 cells for 8 and 24 hours),and the GXM group(with the induced and differentiated THP-1 cell acting by 500 μg/ml of T.asahii GXM for 8 and 24 hours)after being induced differentiation with phorbol 12-myristate 13-acetate(PMA).The expression levels of TLR-2,TLR-4 and TLR-6 messager ribonucleic acid(mRNA)were detected by real-time fluorescent quantitative polymerase chain reaction(RT-qPCR),and the expression level of TLR-2 protein was detected by means of Western Blot(WB).RESULTS The expression levels of TLR-2,TLR-4 and TLR-6 mRNA of the GXM group were 0.65±0.05,0.46±0.03 and 0.51±0.19,respectively,after the THP-1 cells were acted with GXM for 8 hours,lower than those of the blank control group(P＜0.05).After being acting with GXM for 24 hours,the expression level of TLR-2 mRNA of the GXM group was 0.83±0.05,lower than that of the blank control group(t=4.927,P=0.039),and there were no significant differences in the expression levels of TLR-4 and TLR-6 mRNA between the GXM group and the blank control group.The expression level of TLR-2 protein of the GXM group was 85.43±0.40 after the THP-1 cells were acted with GXM for 24 hours,lower than that of the blank control group(t=35.415,P＜0.001).CONCLUSION The T.asahii may possess the capabilities of escaping from the phagocytosis of white blood cells and monocytes by increasing the release of GXM,which may help a certain number of fungi escape from the killing by the immune system of the host and establish the persistent infection.

OBJECTIVE To explore the influence of glucuronoxylomannan(GXM)of Trichosporon asahii on Toll-like receptor(TLR)-2,TLR-4 and TLR-6 in human myeloid leukemia mononuclear cell(THP-1)and analyze the molecular mechanisms.METHODS The THP-1 cells were randomly divided into the blank control group(without any treatment after the culture of induced and differentiated THP-1 cells for 8 and 24 hours),and the GXM group(with the induced and differentiated THP-1 cell acting by 500 μg/ml of T.asahii GXM for 8 and 24 hours)after being induced differentiation with phorbol 12-myristate 13-acetate(PMA).The expression levels of TLR-2,TLR-4 and TLR-6 messager ribonucleic acid(mRNA)were detected by real-time fluorescent quantitative polymerase chain reaction(RT-qPCR),and the expression level of TLR-2 protein was detected by means of Western Blot(WB).RESULTS The expression levels of TLR-2,TLR-4 and TLR-6 mRNA of the GXM group were 0.65±0.05,0.46±0.03 and 0.51±0.19,respectively,after the THP-1 cells were acted with GXM for 8 hours,lower than those of the blank control group(P＜0.05).After being acting with GXM for 24 hours,the expression level of TLR-2 mRNA of the GXM group was 0.83±0.05,lower than that of the blank control group(t=4.927,P=0.039),and there were no significant differences in the expression levels of TLR-4 and TLR-6 mRNA between the GXM group and the blank control group.The expression level of TLR-2 protein of the GXM group was 85.43±0.40 after the THP-1 cells were acted with GXM for 24 hours,lower than that of the blank control group(t=35.415,P＜0.001).CONCLUSION The T.asahii may possess the capabilities of escaping from the phagocytosis of white blood cells and monocytes by increasing the release of GXM,which may help a certain number of fungi escape from the killing by the immune system of the host and establish the persistent infection.

BackgroundDomestic researches on the professional identity of psychiatrists are still relatively rare up to now， and effective evaluation tools remain inadequate. ObjectiveTo construct a professional identity questionnaire for psychiatrists with high reliability and validity， so as to provide an effective tool for the evaluation of professional identity of psychiatrists. MethodsA self-designed questionnaire titled "Professional Identity Questionnaire" was compiled. After preliminary screening of items and expert consultation， an initial questionnaire was formed and administered to a sample of 400 psychiatrists， and the final questionnaire was assessed by item analysis， reliability analysis and validity analysis. ResultsThe Cronbach's α coefficient was 0.930 for the final questionnaire， and ranged from 0.817 to 0.920 for each dimension. The value of KMO was 0.904 （χ²=2 931.652， P<0.01）. The cumulative variance contribution rate of factors extracted from exploratory factor analysis was 68.306%. Confirmatory factor analysis showed that the integrity of fit indexes were χ²/df=1.234， GFI=0.905， NFI=0.916， RMSEA=0.036， CFI=0.983， IFI=0.983. The final version of the professional identity questionnaire for psychiatrists consisted of 23 items relating to 4 dimensions， namely， professional cognition， professional behavior， professional emotion and professional values. ConclusionThe professional identity questionnaire for psychiatrists has good reliability and validity， and can be used as an effective tool to evaluate the professional identity of psychiatrists. ［Funded by Foundation of Sichuan Research Center of Applied Psychology of Chengdu Medical College （number， CSXL-22304）； Science and Technology Guiding Plan Project of Guangyuan City （number， 22ZDYF0072）］

PURPOSE: To evaluate the efficacy of closed reduction on the humeroradial joint in the treatment of Bado type Ⅰ, Ⅱ and Ⅲ fresh Monteggia fractures in children and investigate the effect of clinical factors, including Bado classification, age and time of treatment on the success rate of closed reduction. METHODS: We retrospectively studied the data of children ≤10 years old with fresh Monteggia fractures (injury within two weeks) treated by manual reduction with plaster immobilization from January 2014 to April 2019. All patients were followed up in the outpatient department every two weeks for 4-6 weeks until plaster removal and then 3, 6 and 12 months. Online or telephone interview was provided for some inconvenient patients after 6 months. Mackay criteria were used to evaluate the clinical effect. Radiographic data were collected and reviewed to assess the reduction of the humeroradial joint. Function of the elbow joint and forearm was evaluated and risk factors related to the failure of reduction were assessed. The successful manual reduction was analyzed from three aspects, respectively Bado fracture type (Ⅰ, Ⅱ, Ⅲ), patient age (<3 year, 3-6 years, >6 years) and time interval from injury to treatment (group A, <1 day; group B, 1-3 days; group C, >3 days). RESULTS: Altogether 88 patients were employed in this study, including 58 males (65.9%) and 30 females (34.1%) aged from 1 to 10 years. There were 29 cases (33.0%) of Bado type Ⅰ Monteggia fractures, 16 (18.2%) type Ⅱ and 43 (48.7%) type Ⅲ. Successful manual reduction was achieved in 79 children (89.8%) at the last follow-up. The failed 9 patients received open surgery. Mackay criteria showed 100% good-excellent rate for all the patients. The success rate of manual reduction was 89.7%, 87.5% and 90.7% in Bado type Ⅰ, Ⅱ and Ⅲ cases, respectively, revealing no significant differences among different Bado types (χ = 0.131, p = 0.937). Successful closed reduction was achieved in 13 toddlers (13/13, 100%), 38 preschool children (28/42, 90.5%) and 28 school-age children (28/33, 84.8%), suggesting no significant difference either (χ = 2.375, p = 0.305). However time interval from injury to treatment showed that patients treated within 3 days had a much higher rate of successful manual reduction: 67 cases (67/71, 94.4%) in group A, 10 cases (10/11, 90.9%) in group B, and 2 cases (2/6, 33.3%) in group C (χ = 22.464, p < 0.001). Fisher's test further showed significant differences between groups A and C (p = 0.001) and groups B and C (p = 0.028). CONCLUSION Closed reduction is a safe and effective method for treating fresh Monteggia fractures in children. The reduction should be conducted as soon as possible once the diagnosis has been made.
Child ; Child, Preschool ; Closed Fracture Reduction ; methods ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Monteggia's Fracture ; classification ; surgery ; therapy ; Retrospective Studies ; Time Factors ; Treatment Outcome

Objective: To retrospectively analyze the distribution of non-fermentative bacteria causing bloodstream infection in hospitalized patients in Sichuan Province and their drug susceptibility to common antibiotics for better understanding their epidemiological characteristics. Methods: From January 1, 2015 to December 31, 2017, all of the non-fermentative bacteria isolated from patients with bloodstream infection in nine hospitals in Sichuan Province were collected. Species distribution and drug resistance test results were retrospectively analyzed. Results: A total of 6 291 strains of pathogenic bacteria were isolated, including 3 674 strains of gram-negative bacteria (58.4%) and 2 617 strains of gram-positive bacteria (41.6%). The gram-positive bacteria were 1 895 strains of Staphylococcus (30.1%), 372 strains of Streptococcus (5.9%), 317 strains of Enterococcus (5.1%) and 33 strains of other gram-positive bacteria (0.5%). The gram-negative bacteria were 3 191 Enterobacteriaceae strains (50.7%), 389 non-fermentative strains (6.2%) and 94 other gram-negative strains (1.5%). The isolated non-fermentative bacteria were mainly Pseudomonas aeruginosa (136 strains, 35.0%), Acinetobacter baumannii (126 strains, 32.0%) and Stenotrophomonas maltophilia (33 strains, 8.5%). There were 167 (42.9%), 112 (28.8%) and 82 (21.1%) non-fermentative bacteria isolated in internal medicine departments, ICUs and surgery departments, respectively. The drug resistance rates of Pseudomonas aeruginosa to cefepime, ciprofloxacin and gentamicin were 16.5%, 10.7% and 9.9%, respectively. Carbapenems-resistant Pseudomonas aeruginosa (CR-PA) accounted for 13.6%. No polymyxin-resistant Pseudomonas aeruginosa was found. The resistance rates of Acinetobacter baumannii to all antibiotics were over 30% except for minocycline and polymyxin and 75.7% of carbapenem-resistant Acinetobacter baumannii (CR-AB) were isolated. The drug resistance rates to levofloxacin, trimethoprim/sulfamethoxazole and ceftazidime were 0%, 0% and 37.0% in Stenotrophomonas maltophilia isolates and 10.5%, 4.2% and 19% in Burkholderia cepacia isolates, respectively. Conclusions Non-fermentative bacteria causing 6.2% of bloodstream infection in Sichuan, mainly by Pseudomonas aeruginosa and Acinetobacter baumannii. There were significant differences in the isolation rate of non-fermentative bacteria in different departments and most of the strains were isolated in internal medicine departments. The detection rate of Acinetobacter baumannii with multiple drug resistance was high, while other non-fermentative bacteria had good sensitivity to antibiotics.

Objective: Establishing the mass spectrum library of a new Campylobacter- " C.fetus subsp.testudinum" for rapid species identification in clinical microbiology laboratory. Methods: Illumina second generation sequencing platform 2000/miSeq was used to carry out high flux genome sequencing for the strains which were collected to establish mass spectrum library.The analysis oforthologous average nucleotide identity (OrthoANI) between collected strains and reference strains was performed at JAVA 8 operation environment. Then, the mass spectrums ofcollected strains andreference strains were acquired using MALDI-TOF MS. And the mass spectrum library of C. fetus subsp.testudinum. were established and verified. Results: The OrthoANI analysis showed that the OrthoANI value of the collected strains and the reference strain C. fetus subsp.testudinum03-427 was 99.30%-99.96%, while the OrthoANI values of collected strains and C. fetus subsp.venerealisNCTC10354 orC.fetus subsp.fetus82-40 were 91.05%-92.26%. With reference to OrthoANI ≥ 95% as the basis for the determination of the same strain, the strains which collected to establish mass spectrum library was finally identified as " C. fetus subsp.testudinum" . The identification accuracy rate of the mass spectrum library was 100% (consistent with gene sequencing), and the confidence interval was 82.3%-99.9%, identification of the same strain is 100% reproducible. Conclusions The new" gold standard" based on high throughput sequencing and total genome analysis has provided the ideal reference value for the establishment of mass spectrum library.And the accurate and objective reference spectrum of the" C.fetus subsp.testudinum" provides a new platform for the rapid diagnosis of fetal Campylobacter infection. (Chin J Lab Med, 2018, 41: 583-588)

Objectives To identify the Francisella strain isolated from blood of a patient with drowning-associated pneumonia.Methods The whole genome of the strain,designated Wenzhou1,was sequenced using the high throughput sequencing technology by 2000/miSeq system of Illumina platform,and the obtained genome draft was assembled by MicrobeTrakr Plus software.The phylogenetic neighbors of Wenzhou1 were obtained by NCBI BLAST analysis from GenBank database for the gene sequences of 16S rRNA,malate dehydrogenase(mdh),DNA-directed RNA polymerase subunit beta (rpoB) and succinate dehydrogenase subunit alpha (sdhA).The average nucleotide identity(ANI) between Wenzhou1 and its phylogenetic neighbors was analyzed by the software OrthoANI using NCBI BLAST search under the Java Runtime Environment Version 8.Results The genome size of Wenzhou1 was 1.96 × 106 bp,containing 74 contigs.The genomic G + C mol％ of Wenzhou1 was 32.1％,which was similar to the other species of genus Francisella and Allofranicella.Based on the analysis of NCBI BLAST of GenBank for the similarities of 16S rRNA gene,mdh gene,rpoB gene and sdbA gene sequences,Wenzhou1 was most closely related to F.hispaniensis FSC454 and Francisella cf.novicida 3523.The ANI of Wenzhou1 was 97.8％ to F.hispaniensis FSC454,97.5％ to 97.6％ to Francisella cf.novicida 3523,but only 91.3％ to 91.5％ to the four subspecies of F.tularensis.Conclusion ANI analysis based on whole genome sequence should be an accurate,effective method for bacterial identification.Wenzhou1 could be identified as F.hispaniensis by ANI with high-throughput whole genome sequencing technology.

Objective To investigate the changes of microRNA (miR)-146a ,miR-29b expression levels and the 3 kinds of meth-ylase DNMT1 ,DNMT3a and DNMT3b levels in K562 cell lines after BCR/ABL inhibitor Gleevec treatment .Methods The half maximal inhibitory concentration(IC50 ) of Gleevec on K562 cells was detected by the MTT method .The stem loop primers method and the fluorogenic quantitative PCR were adopted to detect miRNAs and the methylase gene level .Results IC50 of Gleevec acting on K562 cells was 40 .85μmol/L .After Gleevec action ,miR-29b showed the increasing trend ,but 3 kinds of methylase expression level were decreased to some extent .Gleevec could significantly increase the miR-146a level in K562 cells(P<0 .05) .Conclusion Gleevec can influence the expression of miR-146a ,miR-29b and DNMTs levels in K562 cells .