Objective: To reveal the molecular biological mechanism of a rare Dc-variant individual using PacBio third-generation sequencing technology. Methods: ABO and Rh blood type identification, DAT, unexpected antibody screening and D antigen enhancement test were conducted by serological testing. The absorption-elution test was used to detect the e antigen. RHCE gene typing was performed by PCR-SSP, and the 1-10 exons of RHCE were sequenced by Sanger sequencing. The full-length sequences of RHCE, RHD and RHAG were detected by PacBio third-generation sequencing technology. Results: Serological findings: Blood type O, Dc-phenotype, DAT negative, unexpected antibody screening negative; enhanced D antigen expression; no detection of e antigen in the absorption-elution test. PCR-SSP genotyping indicated the presence of only the RHCE c allele. Sanger sequencing results: Exons 5-9 of RHCE were deleted, exon 1 had a heterozygous mutation at c. 48G/C, and exon 2 had five heterozygous mutations at c. 150C/T, c. 178C/A, c. 201A/G, c. 203A/G and c. 307C/T. Third-generation sequencing results: RHCE genotype was RHCE 02N. 08/RHCE-D(5-9)-CE; RHD genotype was RHD 01/RHD 01; RHAG genotype was RHAG 01/RHAG 01 (c. 808G>A and c. 861G>A). Conclusion: This Dc-individual carries the allele RHCE 02N. 08 and the novel allele RHCE-D(5-9)-CE. The findings of this study provide data support and a theoretical basis for elucidating the molecular mechanisms underlying RhCE deficiency phenotypes.

Loss-of-function variants in CSDE1 have been strongly linked to neuropsychiatric disorders, yet the precise role of CSDE1 in neurogenesis remains elusive. In this study, we demonstrate that knockout of Csde1 during cortical development in mice results in impaired neural progenitor proliferation, leading to abnormal cortical lamination and embryonic lethality. Transcriptomic analysis revealed that Csde1 upregulates the transcription of genes involved in the cell cycle network. Applying a dual thymidine-labelling approach, we further revealed prolonged cell cycle durations of neuronal progenitors in Csde1-knockout mice, with a notable extension of the G1 phase. Intersection with CLIP-seq data demonstrated that Csde1 binds to the 3' untranslated region (UTR) of mRNA transcripts encoding cell cycle genes. Particularly, we uncovered that Csde1 directly binds to the 3' UTR of mRNA transcripts encoding Cdk6, a pivotal gene in regulating the transition from the G1 to S phases of the cell cycle, thereby maintaining its stability. Collectively, this study elucidates Csde1 as a novel regulator of Cdk6, sheds new light on its critical roles in orchestrating brain development, and underscores how mutations in Csde1 may contribute to the pathogenesis of neuropsychiatric disorders.
Animals ; Neurogenesis/genetics* ; Cell Cycle/genetics* ; Mice, Knockout ; Mice ; Neural Stem Cells/metabolism* ; DNA-Binding Proteins/metabolism* ; Cyclin-Dependent Kinase 6/genetics* ; Cell Proliferation ; 3' Untranslated Regions ; Cerebral Cortex/embryology* ; RNA-Binding Proteins ; Mice, Inbred C57BL

Objective To compare the efficacy and tolerability of the novel bowel-cleansing agent TCIC-001 and the traditional polyethylene glycol (PEG) regimen for bowel preparation prior to colonoscopy. Methods Prospective inclusion of 62 patients who were scheduled to undergo colonoscopy at Zhongshan Hospital, Fudan University from July 2021 to July 2022. They were randomly divided into TCIC-001 group (n=31) and PEG group (n=31) using a random number table method. The TCIC-001 group took TCIC-001 orally, drinking water in stages, with a total liquid intake of 1 500 mL; the PEG group took PEG orally, taking it in 4 doses, with a total liquid intake of 3 000 mL. The primary endpoint indicator is the quality of intestinal hygiene evaluated by the Boston Bowel Preparation Scale (BBPS), the secondary endpoint indicators were medication adherence, medication duration, frequency of bowel movements, duration of bowel movements, and incidence of adverse events between two groups. Results No significant differences were observed in sex, age, or defecation frequency between the two groups. For efficacy, both groups achieved equivalent bowel cleanliness, with a “good preparation” rate of 93.55% and comparable BBPS score of each intestinal segment and total scores. For tolerability, the TCIC-001 group had a shorter medication duration compared to the PEG group ([48.8±25.9] min vs [82.8±28.4] min, P<0.001), a longer defecation duration ([288.6±74.0] min vs [236.5±74.3] min, P<0.001), and a lower incidence of first defecation before medication completion (9.68% vs 41.94%, P=0.004). Regarding safety, no significant differences were observed between the TCIC-001 group and the PEG group in incidences of chloride disturbances (0% vs 9.68%) and calcium disturbances (3.23% vs 6.45%), and no other adverse events. Conclusions TCIC-001 demonstrated comparable bowel-cleansing efficacy to PEG while significantly improving tolerability (reduced medication time and lower risk of premature defecation) and maintaining favorable safety.

Objective To investigate the relationship between the mean platelet volume(MPV)to platelet count(PLT)ratio(MPV/PLT),blood urea nitrogen(BUN)to lipoprotein a[Lp(a)]ratio[BUN/Lp(a)]and the prognosis of patients with acute exacerbation of chronic obstructive pulmonary disease(COPD).Methods A total of 106 patients with acute exacerbation of COPD admitted to the hospital from January 2021 to January 2024 were selected as the research objects.According to the prognosis,they were divided into sur-vival group(72 cases)and death group(34 cases).The results of routine laboratory tests,blood lipid and lipo-protein levels were compared between the two groups.Multivariate Logistic regression was used to analyze the influencing factors of death in patients with acute exacerbation of COPD.The receiver operating characteristic(ROC)curve was used to evaluate the predictive value of MPV/PLT and BUN/Lp(a)for the prognosis of pa-tients with acute exacerbation of COPD.Results Compared with the survival group,the invasive ventilation rate,acute physiology and chronic health evaluation Ⅱ(APACHE Ⅱ)score,C reactive protein(CRP),white blood cell count(WBC),MPV,BUN,MPV/PLT and BUN/Lp(a)were significantly increased in the death group(P＜0.05).The non-invasive ventilation rate,lymphocyte count,PLT and Lp(a)levels were signifi-cantly decreased(P＜0.05).Multivariate Logistic regression analysis showed that APACHE Ⅱ score,CRP,WBC,lymphocyte count,MPV,PLT,MPV/PLT,BUN,Lp(a)and BUN/Lp(a)were the influencing factors of death in patients with acute exacerbation of COPD(P＜0.05).ROC curve results showed that the sensitivity and specificity of MPV/PLT combined with BUN/Lp(a)for predicting the prognosis of patients with acute exacerbation of COPD were 88.2％and 84.7％,respectively,and the area under curve was 0.887.Conclusion MPV/PLT and BUN/Lp(a)are closely related to the prognosis of patients with acute exacerbation of COPD.The combination of MPV/PLT and BUN/Lp(a)has a high predictive value for the prognosis of patients.

[Abstract] [Objective] To evaluate the immunogenicity of red blood cell blood group antigens in the population of Xi'an. [Methods] Data on blood group antigens of voluntary blood donors from the Shaanxi Province Blood Center and unexpected antibody detection results from clinically submitted cases between January 2019 and May 2024 were analyzed. The Giblett blood group antigen immunogenicity calculation formula was used to calculate the immunogenicity of blood group antigens based on the frequency of unexpected antibodies and the probability of antigen-negative patients receiving antigen-positive red blood cells. The relative immunogenicity of each blood group antigen was obtained by multiplying the immunogenicity of the K antigen (0.095). [Results] A total of 30 921 individuals were included for red blood cell blood group antigen analysis, with 511 cases of unexpected antibody identification. The ranking of red blood cell blood group antigen immunogenicity for the overall population was: Wr^a>E>Di^b>Fy^a>K>C>e>c>Di^a>Jk^a>M>Le^a>Jk^b>Le^b>Fy^b>S, while for males, it was: Di^b>Wr^a>E>K>Fy^a>C>e>c>M>Di^a>Jk^a>Fy^b>Le^a>Le^b>Jk^b>S. [Conclusion] Based on the immunogenicity ranking from strong to weak of red blood cell antigens in the population of Xi'an, this study provides theoretical support for the expansion and matching of antigens, and technical support for achieving precise red blood cell transfusions to improve transfusion efficacy and safety.

Intravascular large B-cell lymphoma(IVLBCL)is an aggressive extranodal large B-cell lymphoma,cocurrence in the same organ with other malignancies is very rare,especially in the lung.Here,we report a rare case of lung adenocarcinoma with IVLBCL.The patient was admitted to the hospital due to diarrhea associated with fever and cough.A computed tomography(CT)scan of the chest showed an irregular patchy high-density shadow in the upper lobe of the right lung with ground-glass opacity at the margin.After admission,the patient was given anti-infection treatment,but still had inter-mittent low fever(up to 37.5 oC).The pathological diagnosis of percutaneous lung biopsy(PLB)was lepidic-predominant ad-enocarcinoma with local infiltration,which was proved to be invasive nonmucinous adenocarcinoma of the lung with IVLBCL after surgery.This paper analyzed the clinicopathological characteristics and reviewed the relevant literature to improve the knowledge of clinicians and pathologists and avoid missed diagnosis or misdiagnosis.

Objective:To analyze the clinical features of postpartum hepatitis flares in pregnant women with hepatitis B virus (HBV) infection.Methods:A retrospective study was conducted. Patients who met the enrollment criteria were included. Liver function and HBV virology tests were collected from pregnant women with chronic HBV infection at delivery, 6, 24, 36, and 48 weeks after delivery through the hospital information and test system. Additionally, antiviral therapy types and drug withdrawal times were collected. Statistical analysis was performed on all the resulting data.Results:A total of 533 pregnant women who met the inclusion criteria were included, with all patients aged (29.5±3.7) years old. A total of 408 cases received antiviral drugs during pregnancy to interrupt mother-to-child transmission. There was no significant difference in the levels of alanine aminotransferase (ALT, z ?=?-1.981, P ?=?0.048), aspartate aminotransferase (AST, z ?=?-3.956, P ?

The Qa-1 in mice is homologous to human leukocyte antigen E(HLA-E), and both of them belong to the non-classical major histocompatibility complex I b(MHC-I b) molecules. Qa-1 is capable of presenting self or exogenous antigen peptides to interact with two distinct receptors, namely T cell receptor (TCR) and natural killer cell group 2 member A (or C) (NKG2A/C), thus playing an important role in immune response and regulation. Qa-1-restricted regulatory CD8⁺ T cell (CD8⁺ Treg) is one of the most studied CD8⁺ Treg subgroups, which can maintain immune homeostasis and autoimmune tolerance by exerting immunosuppressive effects. Consequently, Qa-1-restricted CD8⁺Treg cells are closely associated with the occurrence and development of various clinical diseases, such as tumors, infections, autoimmune diseases, and transplant rejections. This paper provides a comprehensive review of the phenotypic characteristics, functional effects, regulatory mechanisms of Qa-1-restricted CD8⁺ Treg cells, as well as the latest research progresses of Qa-1-restricted CD8⁺ Treg cells involved in the pathogenesis of infectious diseases.
Humans ; Animals ; T-Lymphocytes, Regulatory/immunology* ; Histocompatibility Antigens Class I/immunology* ; CD8-Positive T-Lymphocytes/immunology* ; Communicable Diseases/immunology*

Objective:To summarize the clinical features of out-of-hospital extracorporeal cardiopulmonary resuscitation(ECPR) patients and analyze the factors associated with discharge survival.Methods:The data of 54 patients with ECPR in the Emergency Center of the Second Hospital Affiliated to Zhejiang University School of Medicine from January 2020 to December 2023 were analyzed. Patients were divided into the survival group and death group based on their survival status within 30 days of discharge. Kaplan Meier method was used to draw the survival curve, and COX regression analysis was used to analyze the relevant factors of survival.Results:(1) A total of 54 patients with ECPR were included in this study. 17 (31.5%) cases were discharged alive, of which 10 (58.8%) had a good neurological prognosis, while 37 case (68.5%) died.(2) Kaplan-Meier survival analysis showed that patients who received first-witness CPR, had a lower-extremity perfusion line established, underwent IABP, achieved ROSC, had normal pH, and had an initial pupillary light reflex had a longer median survival time ( P < 0.05). (3) Univariate COX regression analysis showed that statistically differences in survival time among patients with ECMO times, hypoperfusion times, initial pupil sizes, and APACHEⅡ scores ( P < 0.05); (4) Multivariate COX regression analysis showed that APACHEⅡ score, initial pupil size, and IABP were independent predictors of survival of patients discharged from the hospital with emergency ECPR; (5) The concordance index of the COX regression model was 0.921. Conclusions:The survival model demonstrates good predictive accuracy. Healthcare professionals can use the APACHEⅡscore and initial pupil size on admission as important reference indicators to assist in determining patient prognosis, and to timely initiate IABP treatment, in conjunction with the patient’s condition, to improve the survival rate of patients discharged from the hospital.

Humans ; Muscular Dystrophy, Duchenne/epidemiology* ; Prevalence ; Myocardium